Management of sickle cell disease patient in the community

Re: Management of sickle cell disease patient n the community

FELIX ID KONOTEY-AHULU, Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana

Consultant Physiician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 9 Harley Street Ltd., Phoenix Hospital Group, London W1G 9AL

British Medical Journal  Rapid Response www.bmj.com/content/348/bmj.g1765/rr/694233

13 April 2014

Re: Management of sickle cell disease in the community. Valentine Brousse, Julie Makani, David C Rees. 348:doi:10.1136/bmj.g1765

Valentine Brousse and colleagues’ Clinical Review [1], gives doctors little guidance for patient management. “Serjeant’s and my combined experience of 80 years covering thousands of patients in sickle cell crisis” can help. [2].

DISAGREEMENT WITH NICE ON PATIENT MANAGEMENT

Graham Serjeant’s Jamaican experience [3] and my Ghanaian [4] differ from NICE’s Guidance [5] in UK where patients died from Morphine/Diamorphine overdose. [6 7] We managed sickle cell disease (scd) patients to university without Morphine/Diamorphine, Hydroxyuurea, or regular transfusions. Our experience (References 1965 to 2014} could save UK patients.

PROOF OF EXPERTISE http://bit.ly/1gDdMlN [8]

(1) Two brothers and one sister suffered from scd “Hereditary Rheumatism” traced back to 1670 AD www.konotey-ahulu.com/images/generation.jpg [9-11]. Siblings’ commonest cause of sickle cell crises characterized by convulsions and priapism [9 10] was Malaria. One brother had ‘gnathopathy’, my invented word for maxillary marrow hyperactivity [10 12 13 14].
(2) Directing largest Sickle Cell Clinic I catalogued 133 Illustrative Case Histories [10] including alcohol-induced myocardial infarction [10, p 503] and mental nerve neuropathy [15], kanumblll sign. Investigate any numb lower lip for scd. [15]
(3) Haematologist Helen Ranney published “There is no single clinical experience in the United States comparable to that of Dr Konotey-Ahulu” [16].
(4) Receiving with Linus Pauling and others “Martin Luther King Jr Foundation Award for Outstanding Research in Sickle Cell Anaemia” my Keynote Address “Difference between Sickle Cell Disease and Sickle Cell Trait” that exposed fraud of Insurance Companies led to being given 4 bodyguards in Philadelphia. [17] By saying Sickle Cell Trait was “largely asymptomatic” [1] Brousse et al repeated Insurance Companies’ misinformation/disinformation [18-21] used to levy Traits 150% Premium.
(5) On WHO Expert Genetics Advisory Panel with Haemoglobinopathy Greats who valued Ethics in Human Genetics. [22]

LESSONS FROM GRAHAM SERJEANT’S JAMAICAN EXPERIENCE

“In Jamaican experience morphia or its derivatives are rarely used or necessary” [23] and “the most painful crises may be treated in a day centre, the patient returning home in the evening” [24]. See more of Serjeant’s publications from 1968 [23-38].

TIPS FROM MY FIRST PUBLICATIONS IN 1965 [39-41] TO LATEST 2014 [42 43]

(1) KEEP A DIARY! Circumstances [10 39], some patient-specific, precipitate crises eg Ghanaian scd man had sickle crisis on eating oranges [10]. Would Grousse et al start Hydroxyurea [1] after twice eating oranges?
(2) ALWAYS CARRY UMBRELLA. One rain-soaked scd boy got sickle crisis and stroke [44]. Trans-cranial Doppler [1] better prophylactic than raincoat? Hot weather too causes sickle crisis [39].
(3) NOSE PICKING causes Epistaxis [39 45].
(4) VALSALVA MANOEUVRE: In 18 causes of ocular bleeds [10] “six were related to sneezing, blowing nose, shouting, bending down, lifting heavy objects, and vigorous exercise” [46]. Avoid Valsalva in labour; Caesarian Section advised.
(5) DOCTORS BEWARE! Ectopic pregnancy, gall stones [47], appendicitis, splenic infarct [10] misdiagnosed as “Abdominal crisis”. Squatting (Tourniquet effect) can start crisis [10]. Opiates cause “Chest syndrome” [48]. Pulmonary embolism missed [49]. Note Intra-family scd phenotype differences [50 51]
(6) EXAMINE COMMUNITY RUMOUR. Medicated bed nets [1] no better than usual nets and may harm babies [52]. Malaria kills scd patients quicker [10 53-55]. Patients shun Hydroxyurea [56 57] and prenatal diagnosis [58 59] Drinking up to 4 L of water a day has stopped crises for past 25 years, as has “Aerobic Oxygen” 20 drops tds in water [60] Coconut juice clearing jaundice? [60.]
(7) STATIONERY BICYCLE aborts early morning priapism [10, 43]
(8) PRE-SURGERY PARTIAL EXCHANGE TRANSFUSION (Bedside method) [10].
(9) GENETIC COUNSELLING & VOLUNTARY FAMILY SIZE LIMITATION [61-69]
(10) SICKLE CELL DISEASE PATIENT ACHIEVERS teach doctors 1993-2010 [70]
(11) G6PD Deficiency: 1 in 4 male and 1 in 16 female scd patients have this. [71 72]
(12) WORLD SICKLE CELL DAY BROADCASTS AND RESOURCES [73 74]

WHAT CHOICE FOR UK CLINICIANS?

NCEPOD discovered “9 out of 19 patients with sickle cell disease who had pain on admission and who then died had been given excessive doses of opiods” [6 7]. Yet NICE still recommends “a strong opiod intravenously” [5]. But Why? [2 4 10 48 75-87]. Patients complain to BMJ [88-90].

1 Brousse V, Makali J, Rees DC. Management of sickle cell disease in the community. BMJ 2014; 348:g1765 doi:10.1136/bmj.g1765

2 Konotey-Ahulu FID Opiates for sickle cell crisis? Lancet 1998: 351: 1438 “The question that puzzles me is why do west African and West Indian patients with sickle cell disease who did without morphine in our countries have to be given morphine pumps during sickle cell crisis when they come to the UK?”

3 Serjeant G. The case for dedicated sickle cell centres. BMJ 2007; 334: 477

4 Konotey-Ahulu FID. Dedicated sickle cell centres. BMJ Rapid responses March 20 2007 http://www.bmj.com/cgi/eletters/335/7618/462#167455

5 NICE GUIDELINES. Management of acute painful sickle cell episode in hospital; summary of NICE Guidance. BMJ 2012; 344: doi:http://dx.doiorg/10 1136/bmj’e’4063

6 NCEPOD – National Confidential Enquiry into Patient Outcome and Death. SICKLE: A Sickle Crisis? 2008 [Sebastian Lucas (Clinical Coordinator), David Mason (Clinical Coordinator), M Mason (Chief Executive), D Weyman (Researcher)/ Tom Treasurer (Chairman) info@incepod.org

7 Mason S. Enquiry shows poor care for patients with sickle cell disease. BMJ 2008; 336: 1152 “In 2 years 9 out of the 19 patients with sickle cell disease who had pain on admission and who then died had been given excessive doses of opiods”

8 Konotey-Ahulu FID. http://bit.ly/1gDdMlN International request to manage patients, for example, sicklecell.md/blog/index.php/2007/06/request-from-geneva-for-patient-in-hospital-in-colorado-usa June 2007

9 Konotey-Ahulu FID. Pattern of Sickle Cell Disease in Ghana (A Study Of 1,550 Consecutive Patients) – A Thesis Presented For The Degree of Doctor of Medicine (M.D.) In The University Of London 1971 Awarded Feb 1972.

10 Konotey-Ahulu FID. The Sickle Cell Disease Patient. Clinico-epidemiological study of 1550 consecutive patients at Korle Bu Hospital, Accra. T-A’D Co, Watford 1996 http://www.sicklecell.mde/aboutscd.asp
(Reprint of Konotey-Ahulu FID. The Sickle Cell Disease Patient. Natural History from a clinico-epidemiological study of the first 1550 patients of Korle Bu Hospital Sickle Cell Clinic. London & Basingstoke, Macmillan Press Ltd 1991/1992. Foreword by Roland B Scott MD, Howard Univ, Washington DC)

11 Konotey-Ahulu FID. Sickle Cell Disease In Successive Ghanaian Generations For Three Centuries (Manya Krobo Tribe) In The Human Genome Diversity Project: Cogitations of An African Native. Politics and The Life Sciences (PLS) 1999; Vol 18: No 2, pp 317-322.

12 Konotey-Ahulu FID. Effect of environment on sickle cell disease in West Africa; epidemiologic and clinical considerations. Chapter 3 in SICKLE CELL DISEASE – diagnosis, management, education and research. Eds Ahramson, Bertles JF, Wethers Doris L; St Louis – CV Mosby Co 1973, pp 20-38.

13 Konotey-Ahulu FID. The Sickle Cell Diseases: Clinical manifestations including the Sickle Crisis. Archives Intern Med 1974; 133: 611-619. http://archinte.ama.assn.org/cgi/reprint/133/4/611.pdf

14 Konotey-Ahulu FID. The liver in sickle cell disease. Clinical aspects. Ghana Med J 1969; 8: 104-118. (First ever use of word “Gnathopathy”)

15 Konotey-Ahulu FID. Mental nerve neuropathy: a complication of sickle cell crisis. Lancet 1972; 2: 388 [Constitutes discovery of a new physical sign in Clinical Medicine – The kanumblll sign spells out who discovered it, what it is, and where published: “konotey-ahulu numb lower lip Lancet” sign 1972]

16 Ranney Helen. Summary of Symposium 1972 on Sickle Cell Disease – Diagnosis, Management, Education and Research – In SICKLE CELL DISEASE, Eds H Abramson, John F Bertles, Doris Wethers (C Mosby Co), 1973, page 320: “There is no single clinical experience in the United States comparable to that of Dr Konotey-Ahulu”

17 Konotey-Ahulu FID. Four bodyguards and the perils of unmasking scientific truths www.bmj.com/cgi/reprint/335/7612/210.pdf BMJ 2007; 335: 210-11 BMJ July28 2007.

18 Konotey-Ahulu FID. Beware of symptomatic sickle cell traits. Lancet 1992; 339: 555. Doi:10.1016/0140-6736(92)90377-F (Pointing out that the Sickle Cell Trait ‘AS’ may not be true Sickle Trait, and that the Haemoglobin C Trait ‘AC’, may be something else, as the “A” has been shown could stand for Hb Quebec-Chori, by Witkowska et al – New Eng J Med 1991; 325: 1150-54 http://www.thelancet.com/journals/lancet/article/PII0140-6736(92)90377-F/fulltext

19 Konotey-Ahulu FID. Blaming sudden death on Sickle Cell Trait? Flaws in article of Charis Kepron, Gino Sobers, Michael Pollanen Exposed Sept 14 2011 www.sicklecell.md/blog/?p=105 or www.konotey-ahulu.com/blog/?p=105

20 Konotey-Ahulu FID. Sickle cell Trait Misinformation and Disinformation Nov 30 2011 www.sicklecell.md/blog/?=108 [Comprehensive Review]

21 Konotey-Ahulu FID. Further Communication on “Sickle Cell Trait Misinformation and Disinformation” and Sickle Cell Terminology: Disease or Disorder? www.sicklecell.md/blog/?p=127 April 16 2012

22 Boyo Alex E, Cabannes R, Conley CR, Lehmann H, Luzzatto L, Milner PF, Ringelhann B, Weatherall DJ, Barrai I, Konotey-Ahulu FID, Motulsky AG. WHO (Geneva) Scientific Group on Treatment of Haemoglobinopathies and Allied Disorders. (Technical Report) 1972; 509: 83 pages.

23 Serjeant GR. Sickle Cell Disease. Oxford, Oxford University Press, 1985.

24 Serjeant GR. Sickle cell disease. Lancet 1997; 35: 725-730.

25 Serjeant GR, Richards R., Barbor PRH, Milner PF. Relatively benign sickle cell anaemia in 60 patients aged over 30 in the West Indies. BMJ 1968; 3: 86

26 Serjeant GR, Serjeant BE, Milner PF. The irreversibly sickle cell: a determinant for haemolysis in sickle cell anaemia. Br J Haematol 1969; 17: 527-533.

27 Serjeant GR, Galloway RE, Gueri MC. Oral zinc sulphate in sickle cell ulcers. Lancet 1970; 2: 891

28 Serjeant GR. The clinical picture of sickle cell anaemia in Jamaica. MD Thesis, University of Cambridge, 1971.

29 Serjeant GR, Ashcroft. Shortening of the digits in sickle cell anaemia. A sequel of the hand-foot syndrome. Trop Gegraph Med 1971; 23: 341-346.

30 Serjeant GR, et al 1972. The conjunctival sign in sickle cell anaemia. JAMA 1972; 219: 1428-31

31 Serjeant GR, et al. The clinical features of sickle cell beta-thalassaemia in Jamaica. Brit J Haematolol 1973; 24: 19-30

32 Serjeant GR, et al. The clinical features of haemoglobin SC disease in Jamaica. Brit J Haematolol 1973; 24: 491-500.

33 Serjeant GR et al. Screening of cord blood for the detection of sickle cell disease in Jamaica. Clim Chem 1974; 20: 666-69.

34 Serjeant GR et al. The internal auditory canal and sensori-neural hearing loss in homozygous sickle cell disease. J Laryngol Otol 1975: 89: 453-455

35 Serjeant GR. Sickle Cell Disease, 2nd Ed. Oxford, Oxf Univ Press, 1992.

36 Serjeant GR, De Ceulaer C, Lethbridge R, et al. The painful crisis of homozygous sickle cell disease. Br J Haematol 1994; 87: 586-591.

37 Serjeant GR, Serjeant B. Sickle Cell Disease, 3rd Ed, Oxford, OUP, 2001.

38 Serjeant GR. Blood transfusion in sickle cell disease. A cautionary tale. Lancet 2003; 361: 1659-60 [Graham Serjeant’s adult not-transfused patient in Jamaica went on holiday in USA, was transfused and died!].

39 Konotey-Ahulu FID Konotey-Ahulu FID. Sicklaemic human hygrometers. Lancet 1965; 1:1003 1004 [Listing precipitating causes of crises eg hot weather etc] [http://www.pubmedcentral.nih.gov/picender.fcgi?artid=1846286&blobtype=pdf

40 Konotey-Ahulu FID. Torrential epistaxis associated with symmetrical facial skin ulceration in sickle cell anaemia. BMJ 1965; 2:859-860 doi:10.1136/bmj2.5466.859
http://www.bmj.com/cgi/reprint/2/5466/859.pdf

41 Konotey-Ahulu FID, Kuma Eunice. Skeletal crumbling in sickle cell anaemia complicated by Salmonella typhi infection. Brit J Clin Practice 1965; 19: 575-578.
http://www.pubmedcentral.nih.gov/picender.fcgi?artid=1846577&blobtype=pdf

42 Konotey-Ahulu FID. Acute osteomyelitis in African children unmasks un-masks sickle cell disease with salmonellosis BMJ Rapid Response February 1 2014 http://www.bmj.com/content/348/bmj.g66?tab=response

43 Konotey-Ahulu FID. Erectile dysfunction: Test, please, for Sickle Cell Disease www.bmj.com/content/348.g129

44 Konotey-Ahulu FID. Sickle cell disease and the patient Lancet 2005; 382-383 Jan 29-Feb 4 [Importance of Circumstances in initiating crises]

45 Konotey-Ahulu FID. Epistaxis from sickle cell disease must not be forgotten www.bmj.com/content/344/bmj.e1097/rr/576087 28 March 2012

46 Konotey-Ahulu FID. Valsalva vitreous haemorrhage and retinopathy in sickle cell haemoglobin C disease. Lancet 1997; 349: 1774

47 Archampong EQ, Konotey-Ahulu FID. Biliary tract disease and sickle cell anaemia in Korle Bu Hospital, Accra. Ghana Med J 1975; 14: 176-180

48 Ringelhann Bela, Konotey-Ahulu FID. Haemoglobinopathies and Thalassaemias in Mediterranean areas and in West Africa: Historical and other perspectives 1910 to 1997. Accademia del Scienze Ferrara Atti, volume 74, Anno Accademico 174 1996-97, pages 297-307 [A Century Review]

49 Shoetan Cecilia. I lost my Sickle Cell Disease adult daughter minutes after being given Diamorphine intravenously when she could not breathe. http://www.bmj.com/cgi/eletters/336/7654/1152-a#196520 June 3 2008 BMJ

50 Konotey-Ahulu FID, Ringelhann B. Sickle cell anaemia, sickle cell thalassaemia, sickle cell haemoglobin C disease, and asymptomatic haemoglobin C thalassaemia in one Ghanaian family. BMJ 1969; 1: 607-612. http://www.bmj.com/cgi/reprint/2/5648/48.pdf [4 Hbnopathy phenotypes]

51 Konotey-Ahulu FID. Patterns of clinical haemoglobinopathy. East African Med J 1969; 46: 149-156 (With tables that distinguish phenotypes clinically)

52 The Globe and Mail, Toronto. Tough flights for mosquito nets. “If they are safe for babies and mothers in Africa, why are they not safe enough in Canada for a week?” 18 August 2006.

53 Konotey-Ahulu FID. Malaria and sickle cell disease. BMJ 1971; 2: 710-11.

54 Djabanor FFT, Reindorf CA, Konotey-Ahulu FID. The effect of sickle cell disease on Ghanaian children. In First International Publication No (HSM) 1974; 73-9141: 70-87

55 Konotey-Ahulu FID. Malaria and sickle cell: “Protection?” Or “No Protection?” – Confusion reigns. BMJ Rapid Response October 13 2008. http://www.bmj.com/cgi/eletters/337/oct01_3/a1875#203067

56 Olujohungbe A, Cinkotal I, Yardumian A. Hydroxyurea therapy for sickle cell disease in Britain. BMJ Editorial 1998; 316: 1689. “Many patients are unwilling to take the drug.”

57 Olujoungbe Ade. Bi-directional trust is needed in pain management in sickle cell disease. BMJ Rapid Response 2 July 1999 to Maxwell K, Streetly A, Bevan D BMJ 1999; 318: 1585-1590.

58 Konotey-Ahulu FID. Ethical issues in pre-natal diagnosis. BMJ 1984; 289: 185 http://www.bmj.com/cgi/reprint/289/6438/185-a.pdf

59 Konotey-Ahulu FID. Refusing to provide a pre-natal test for refusing later termination of pregnancy; can it ever be ethical? BMJ Rapid Response. November 20 2006 http://www.bmj.com/cgi/eletters/333/7577/1066#149662

60 Konotey-Ahulu FID. The Sickle Achievers (1). Ghanaian Times, July 23 2005 “I cannot think of a single Ghanaian family that did not have or know of someone with sickle cell disease – known by Tribal names”

61 Konotey-Ahulu FID. The Sickle Achievers (2) Ghanaian Times. August 13 2005 “Some time ago I coined the term for cold season Rheumatism which Europeans call Sickle Cell Disease … The ACHEACHE Syndrome (1 ACHE from each parent”. Makes it easy for Genetic Counselling.

62 Konotey-Ahulu FID. Genetic Counselling in sickle cell disease. BMJ 1969; 3: 235 http://www.bmj.com/cgi/reprint/3/5664/235.pdf (Put ‘ACHE’ for ‘BAD’) PERSONAL VIEW doi:10.1136/bmj.2.5648.48

63 Konotey-Ahulu FID. Sickle cell disease. The Case for Family Planning ASTAB Books Ltd, Accra, 1973

64 Konotey-Ahulu FID. Need for ethnic experts to tackle genetic public health. Lancet 2007; 370: 1836 [doi:10.1016/50140-6736(07)61771-1]
www.thelancet.com/journals/lancet/article/PIIS0140-6736(07)61771-1/fulltext

65 Ringelhann B, Konotey-Ahulu FID, Yawson G, Bruce-Tagoe AA, Miller A, Huisman THJ. Alpha Thalassaemia in West Africa. Symposium in Medical Genetics, Debrecen-Hajduszoboslo, Hungary (April 26-29 1976), pp 614-616 in Szabo G and Papp Z, Eds Medical Genetics, Excerpta Medica 1977

66 Konotey-Ahulu FID. Maintenance of high sickling rate in Africa: Role of polygamy. J Trop Med Hyg 1970 Jan; 73(1): 19-21 (38 References)

67 Bonney GE, Konotey-Ahulu FID. Polygamy and genetic equilibrium. Nature 1977; 265: 46-47 doi:10.1038/265046a0..n5589/pdf/265046a0.pdf
http://www.nature.com/nature/journal/v265/n5589/abs/265046a0.html

68 Konotey-Ahulu FID. Male procreative superiority index (MPSI): The missing co-efficient in African anthropogenetics. BMJ 1980; 291: 1700-02.
http://www.bmj.com/cgi/reprint/281/6256/1700.pdf

69 Konotey-Ahulu FID. The Male Procreative Superiority Index (MPSI): It’s relevance to genetical counselling. In FIFTY YEARS OF HUMAN GENETICS – A Festschrift and liber amicorium to celebrate the life and work of GEORGE ROBERT FRASER. Ed: Oliver Mayo & Carolyn Leach. Wakefield Press 2007, 1 The Parade West, Kent Town, Sth Australia www.wakefieldpress.com.au

70 Omaboe Letitia, Konotey-Ahulu FID. The Second International Conference on The Achievements of Sickle Cell Disease Patients. Accra 19th July 1995 Conference Brochure

71 Acquaye CTA, Gbedemah KA, Konotey-Ahulu FID. Glucose-6-phosphate Dehydrogenase Deficiency Incidence in Sickle Cell Disease patients in Accra. Ghana Med J 1977; 16: 4-9

72 Konotey-Ahulu FID. G6PD Deficiency in Ghanaians. How to recognise it.
Click ‘BLOG’ on www.sicklecell.md and click on January 2008 for 20 answers.

73 Konotey-Ahulu FID. WORLD SICKLE CELL DAY 19th June 2012 www.sicklecell.md/blog/?p=132 Featuring (i) The Inheritance of Sickle Cell Disease (ii) The Person with Sickle Cell Disease (iii) The Teenager with Sickle Cell Disease (iv) The Adult with Sickle Cell Disease.

74 WORLD SICKLE CELL DAY 19th June 1013. Broadcast Interview by Tunu Louise Roberts emphasising Public Health Approach to management, and Genetic Counselling with NORMACHE as Trait and ACHEACHE as Disease www.sicklecell.md or www.konotey-ahulu.com (Home Page) Also accessed as http://youtu.be/wEyebVIhr7Q [Suitable for patients and parents

75 Konotey-Ahulu FID. Morphine for painful crises in sickle cell disease. BMJ 1991; 302: 1604 (Commenting on Professor Chamberlain’s recommendation of morphine in pregnancy in sickle cell disease – BMJ 1991; 302: 1327-30). “In obstetrics what happens too foetal respiration when morphine is used?” http://www.bmj.com/cgi/reprint/302/6792/1604-c.pdf

76 Konotey-Ahulu FID. Management of patients with sickle cell disease. African Journal of Health Sciences 1998; 5: 47 [On Sally Davies and Lola Oni in BMJ 315: 656-60 “The Central Middlesex management protocol uses morphine infusions”] Response: “I fear Davies and Oni’s statement will make morphine the accepted drug for sickle crisis management. The consequences for such an approach are dire, especially when some UK hospitals are already making diamorphine their first choice”. And what did NCEPOD find in 2008?

77 Konotey-Ahulu FID. Opiates for sickle cell crisis. Lancet 1998; 352: 651-2

78 Konotey-Ahulu FID. Opiates for pain in dying patients and in those with sickle cell disease www.bmj.com/cgi/eletters/335/7622/685#177986 BMJ Response 11 Oct 2007

79 Konotey-Ahulu FID. Current “hit and miss” care provision for sickle cell disease patients in the UK. BMJ Rapid Response 16 July 2008. http://www.bmj.com/cgi/eletters/337/jul11_2/a/771#199135

80 Konotey-Ahulu FID. Management of sickle cell disease versus management of the sickle cell disease patient. BMJ Rapid Response 17 Sept 2008 http://www.bmj.com/cgi/eletters/337/sep08_1/a1397#202088

81 Konotey-Ahulu FID. Clinicians facing conflicting recommendations. Use common-sense? http://ww.bmj.com/cgi/eletters/337/nov28_2/a2530#205377 December 2008.

82 Konotey-Ahulu FID. Poor care for sickle cell disease patients: This wake-up call is overdue. BMJ Rapid Response (May 28) BMJ 2008; 336: 1152 http://www.bmj.com/cgi/eletters/336/7654/1152-a#196244 to Susan Mayor’s “Enquiry shows poor care for patients with sickle cell disease” on National Confidential Enquiry into Patient Outcome and Death (NCEPOD) REPORT “SICKLE: A Sickle Crisis? (2008)” http://www.info@ncepod.com

83 Konotey-Ahulu FID. Inquest into diamorphine deaths: Does NCEPOD sickle cell patients report warrant a similar inquest? BMJ Rapid Response March 7 2009 http://www.bmj.com/cgi/eletters/338/mar03_3/b903#210208

84 Konotey-Ahulu FID. UK Drug related deaths are still rising: So where is NICE? http://www.bmj.com/cgi/eletters/sep01_1/b3536#219836 BMJ Rapid Response to S Mayor: “UK drug related deaths are still rising.” Sept 6 2009. .

85 Konotey-Ahulu FID. The politics and economics of pain relief in the West and Third World. http://www.bmj.com/cgi/eletters/341/aug11_2/c3800#240684 Response Aug 24 to T Anderson doi:10.1136/bmj.c3800 Aug 11 2010

86 Konotey-Ahulu FID. Management of an acute painful sickle cell episode in hospital. NICE Guidance is frightening! BMJ Rapid Response Sept 7 2012 www.bmj.com/content/344/bmj.e4063/rr/599158 (42 References)

87 Konotey-Ahulu FID. Opiods for chronic non-cancer pain – Chemotherapy – Clinical Guidelines: Where does ultimate responsibility lie? BMJ Rapid Response www.bmj.com/content/346/bmj.f2937/rr/651421 June 25 2013

88 Dankwa Akosua M. Sickle Cell patients deserve to live. BMJ Rapid Response to NCEPOD Report 11 July 2008 [Adult “SS” wrote to the BMJ:
http://www.bmj.com/cgi/eletters/336/7654/1152-a “I know 60 and 70 year olds (yes, sickle cell patients) who have got to that age without ever receiving this as treatment”.

89 Chapman Nyaho Mawunu. Poor care for the sickle cell disease patient: “Pain won’t kill him, but Morphine could”. BMJ Rapid Response to NCEPOD by adult Sickle cell haemoglobin C disease grand-mother 17 June 2008 http://www.bmj.com/cgi/eletters/336/7654/1152a

90 Amanor-Boadu Dorothy, Bruce-Tagoe Alexander, Konotey-Ahulu Felix. The Third International Conference On The Achievements Of Sickle Cell Disease (ACHEACHE) Patients, Accra – 19th July 2010. Adeko Ltd, Accra ISBN: 978-9988-1-3927-8 “One known ‘SS’ man with a PhD, who had never in his 63 years been transfused though Hb level was never above 8.8 g/dL and who had never been prescribed Hydroxyurea, astonished delegates when he announced ‘I do not remember when I last took a pain killer for my sickle cell anaemia. Drink plenty of water, avoid malaria, and have a positive attitude to life’” [page 15] Quoted in full in link of Reference 85 above. [Dorothy Amanor-Boadu herself is a 59-year old “SS” Nurse Oncologist in Accra].

Competing interests: Coming from a family with 3 Sickle Cell Disease (scd) siblings I find it very difficult to remain detached when the received wisdom in the management of scd patients that was proven by NCEPOD to be harmful is still endorsed by NICE.

FELIX ID KONOTEY-AHULU, Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana

Consultant Physiician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 9 Harley Street Ltd., Phoenix Hospital Group, London W1G 9AL

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JFK Assassination, sermon by Dr Martyn Lloyd-Jones 24 Nov 1963 now online!

President J F Kennedy Assassinated Friday November 22 1963

Westminster Chapel with Dr Martyn Lloyd-Jones Sunday pm Nov 24 1963

Diary Entry of Dr Felix I D Konotey-Ahulu in London

LORD’s Day 24th Nov 1963: The Doctor preached as usual on John 1 v 16 in morning, and Gal. 6 v 14 in evening and he made it most relevant to President Kennedy’s assassination – The Cross as the only thing that makes peace, and brings people together. “I would wish President Kennedy’s murder to bring peace, but I know it won’t. I tell you of a MURDER that reconciles sinful man to GOD!” It was tremendous. Spent day at Mum’s with my beloved & Dawid. Evening prayer together. We heard after chapel the suspect of Kennedy’s killer shot dead.

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On the 50th Anniversary, our Baby Dawid who was then 3 months old when JFK was killed, has now reproduced the entire Sunday evening Service at Westminster Chapel in which the words of the preacher, Dr Martyn Lloyd-Jones, quoted in bold letters above were said. See www.soundcloud.com/dawid1 and click on JFK, and join those of us who were there half a century ago in a Remembrance Worship:-

Prayer (Short)

Hymn: Before Jehovah’s awful Throne

Scripture Reading: Ephesians 2 verses 1 to 22

Hymn: My GOD I thank Thee

Prayer (Comprehensive)

Hymn: In the Cross of Christ I glory

Sermon: Galatians 6 v 14 “God forbid that I should glory save in the Cross of Christ”

Hymn: Abide with me

Prayer and Benediction

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Professor George Ebow Bonney, Ph.D. – Tribute by Professor Felix I D Konotey-Ahulu

george_ebow_bonney
Professor George Ebow Bonney, Ph.D.

Research Scientist, Musician, and Christian
Tribute by Professor Felix I D Konotey-Ahulu*

He was a genius! George Ebow Bonney could have read any subject in university and been able to excel at whatever he did. He chose Mathematics with special emphasis on Statistics, making a huge impact on both sides of The Atlantic. It was my great fortune to have had George work with me at the erstwhile Ghana Institute of Clinical Genetics at the Korle Bu Teaching Hospital in Accra.

RESEARCH

Using students on summer holiday from the then 3 main universities (Legon, Cape Coast, and Kumasi) and paying them handsomely I had organized a countrywide survey of male/female differential procreation to decide how this affected the prevalence of the Sickle Cell Gene in the various regions in Ghana. We had just found that males, indeed, had more children than females when George joined us on the advice of geneticist Professor Ebenezer Laing of the University of Ghana. “George”, I said to him “I want a mathematical underpinning of this fact known to all Africans, but which Europeans appear to think is nonsense because they cannot imagine how a man can have more children than a woman”. I presented him with our data, and in no time George produced a marvelous article which we published in the world’s leading Science magazine with him as senior author entitled: “POLYGAMY AND GENETIC EQUILIBRIUM” We travelled to Debrecen in Hungary to present papers at the International Congress in Human Genetics.

We next embarked on Twin Studies from 13,000 consecutive births at the Korle Bu Teaching Hospital. Our unique findings that in Ghana 1 in every 30 consecutive deliveries produced twins compared with 1 in 80 single births in Britain, 1 for 86 in the USA, and 1 in 145 in Japan enthralled geneticists. George Bonney was the one to present the findings of our team (Mary Walker, Koblah Gbedemah, and me) at the International Congress on Twin Studies in the USA, available today as Proceedings of the Second International Congress on Twin Studies Part C, Editor Walter Nance in Progress in Clinical and Biological Research 1978; Volume 24 Pt B, pages 105 to 108.

George Bonney was simply, simply brilliant. When he crossed the Atlantic his worth was soon recognized. His field of research broadened from Genetic Epidemiology, to Statistical Analysis, Mapping of Human Chromosomes, Breast Cancer, Alcoholism, Nicotine Dependence and, recently, Prostate Cancer. Louisiana State University and Howard University held him in very high esteem. Teamed up with Professor Georgia Dunston and brilliant Others at the Howard University Genome Project, George Bonney’s input was well acknowledged. I myself benefited much when he and Professor Dunston invited me to contribute to the First International Inaugural Conference on The Human Genome in Washington DC in 2009. The measure of his global impact can be gauged from the 1988 Tenth Annual George W Sender Award for (wait for it) “The best published work in Biometry in any journal sponsored jointly by the American Statistical Association & the Biometrics Societies of North America” [For researchers seeking to check on this see (i) “Regressive logistic models for familial disease and other binary traits” Biometrics 1986; Volume 42: pages 611 to 625, and also (ii) Biometrics 1987; Volume 43: pages 951 to 973]. He published right up to 2012.

In one National Award Ceremony in the USA, when his name was announced to receive First Prize the audience was expecting to see a Japanese walk to the podium (the name “Bonney” sounded rather Japanese), and were astonished to behold a Ghanaian African walk up accompanied by great applause. I have quite deliberately gone into some detail of what George Ebow Bonney achieved in Science not only to encourage Africa’s younger generation to emulate his hard work, but also (as we shall see in the next section) to debunk the present all-pervading aggressive atheism that says brilliant people do not accept the existence of GOD.

GEORGE BONNEY’S FAITH EXPRESSED IN MUSIC

George’s musical proclivities became evident when, at the University of Ghana, he directed the Male Voice Choir of the University Christian Union. He played the piano and the organ with virtuosity, and his detailed knowledge of Tonic Sol-fa made it easy, and a joy, for him to teach all 4 vocal parts to singers. Remarks Reindorf Baah Perbi, himself an attractive bass voice singer: “I think it was in the Male Voice Choir that some of us learnt the song ‘When we all get to Heaven’” the first verse with chorus of which goes:

Sing the wondrous love of Jesus
Sing His mercy and His grace
In the mansions bright and blessed
He’ll prepare for us a place.
When we all get to heaven
What a day of rejoicing it will be!
When we all see Jesus
We’ll sing and shout the victory!

But Joanna Nerquaye-Tetteh quickly adds that it was not just the male choir that George Bonney taught sacred music to: “He taught the Female Voice Choir too, and he taught us to sing ‘It’s not an easy road, but The LORD is with us!’”

Capt. James Hackman Tachie-Menson’s Hymnal and Book of Anthems
To me Professor George Bonney’s musical legacy is entwined with that of Capt. James H Tachie-Menson whose 4 books are a MUST READ and a MUST SING by all, and I mean all, Ghanaians. I am constrained (if I am to do justice to the sweet memory of George Bonney) to quote the first paragraph of his Foreword to the four extraordinary books:“The four volumes of Songs from Land and Sea: The Captain’s Hymnal in Staff Notation, The Captain’s Hymnal in Tonic Sol-fa Notation, The Captain’s Book of Anthems in Staff Notation, and the Captain’s Book of Anthems in Tonic Sol-fa Notation, bring together for the first

“The four volumes of Songs from Land and Sea: The Captain’s Hymnal in Staff Notation, The Captain’s Hymnal in Tonic Sol-fa Notation, The Captain’s Book of Anthems in Staff Notation, and the Captain’s Book of Anthems in Tonic Sol-fa Notation, bring together for the first time, the sacred compositions of Captain James Hackman Tachie-Menson. I have had indescribable joy collaborating with Captain to produce the First Editions of his work.”

For George Bonney to manage to render each (and every one) of these compositions into Tonic Sol- fa, not only for Treble, but also for Alto, Tenor, and Bass is a mark of rare genius. I do not know of any Professor of Music anywhere in the world who could have done that. Captain James H Tachie-Menson says it all in his Preface to the books:

“I would like to give my very special and sincere thanks to Professor George E. Bonney of Howard University in Washington D.C., the originator and coordinator of the project, who of his own volition and initiative personally transcribed the music from staff notation to tonic sol-fa. He has worked tirelessly to bring this project to fruition”.

GIVEN TO HOSPITALITY

George Ebow Bonney was blessed by the Lord Jesus Christ in the gift of Ewura Efua, that wonderful wife of his. What a privilege for Rosemary, my wife, and myself to be very welcome guests in their beautiful home in Rockville, Maryland in the USA. Many others have testified to their hospitality. We saw and profited from their love for The Lord Jesus who equipped Ewura Efua to live with the punishing schedule of her husband who worked long hours, and appeared to do many things simultaneously. Oh how George will be missed!

My heartfelt Condolences and Rosemary’s go to gallant Ewura Efua, and their children and families Aba Bonney Kwawu and Erwin Kwawu and their children Sela Kwawu and Eli Kwawu, and Kofi Bonney and wife Nicole Bonney, and the larger families in Ghana. May the GOD of all comfort surround them with His amazing love in The Lord Jesus Christ through the power of The Holy Spirit. [2 Corinthians chapter 1 verses 3 & 4]. As for George Ebow Bonney, what a Prospect!

H E A V E N

Oh think to step ashore, and that shore Heaven; To take hold of a hand, and that hand God’s hand; To breathe a new air, and that air Celestial air;
To feel invigorated, and know it, Immortality; Oh think, to pass from the storm and tempest To one unbroken smile,
To wake, and find it GLORY!

*Felix I D Konotey-Ahulu is Dr Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 9 Harley Street Ltd, Phoenix Hospital Group, London W1G 9AL [ www.konotey- ahulu.com & www.sicklecell.md ]

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Most religious followers support assisted suicide for the dying: Survey flawed through inadequate definition of “religious” and “terminally ill”.

Posted on May 15, 2013 by admin.sicklecell.md Rapid Response in British Medical Journal

Felix I D Konotey-Ahulu www.bmj.com/content/345/bmj.f2855/rr/645095 12 May 2013 response to

Most religious followers support assisted suicide for the dying.

British Medical Journal – 11 May 2013 Volume 346, p3 – NEWS

Zosia Kmietowicz www.bmj.com/content/345/bmj.f2855?sso

Most religious followers supported assisted suicide for the dying: Survey flawed through inadequate definition of “religious” and “terminally ill”.

Those who “said that they followed a religion” were regarded as “religious followers” [1] and their opinions about “a change in the law to allow assisted suicide for people who are terminally ill” recorded in a survey which I consider deeply flawed because of inadequate definition of “religious” and, when Palliative Care Experts are not themselves unanimous [2] in agreeing on who can be called “terminally ill”, how was the term explained to the “nearly 4500 adults” in the survey? [1]

CHURCH OF ENGLAND QUERIES SURVEY

While it was claimed that there was “strong support for a change in the law” from 72% of 1519 Anglicans in the survey organised by Linda Woodhead, Lancaster University Professor of Sociology of Religion, the Church of England spokesman, quite rightly in my view, said such an important subject “cannot be effectively conducted through the medium of online surveys” – a criticism that Professor Woodhead apparently dismissed on the grounds that she was better placed to define who an Anglican follower was than the Church herself.

ETHICS, NOT SOCIOLOGY, IS CRUX OF THE MATTER

The second flaw in Professor Linda Woodhead’s survey is a lack of distinction between legality and ethics when it comes to questions of assisted suicide. To assume that “the Law” is all that needs consideration in this matter is grossly mistaken. I have previously pointed out in the BMJ how two brilliant British Professors of Genetics, both FRS, treated the ethical principle surrounding a genetic defect I had described in the BMJ, in two entirely different ways in their well known textbooks of Genetics. One FRS used my story to underline the importance of Ethics in Clinical Medicine. The other FRS, also publishing details of my story, did not even mention the word “ethics” in his Genetics book. Assisted suicide is bigger than sociology of religion. Any survey done without highlighting the ethical dimension, regardless of the brilliance and reputation of the organisers of the survey, is deeply flawed.

RELIGION IS BROADER THAN CHURCH, MOSQUE, SYNAGOGUE

Third Flaw: Professor Linda Woodhead needs no reminding that there are atheists who are deeply religious. Some of my brilliant atheistic friends and acquaintances worship Scientific Humanism. If they are also labelled as religious (as they need to be) then does the thrust of the survey with the message it seems to convey not become meaningless?

FACE-TO-FACE SURVEYS PREFERABLE IN CONTROVERSIAL MATTERS

In controversial matters it is always good policy to demand face to face interviews where the interviewer can be asked questions such as: (i) “What is your definition of ‘religion’?” (ii) “Have some terminally ill patients not been known to improve unexpectedly and gone home?” (iii) “Why was the present law on assisted suicide acceptable a decade ago, but not now?” (iv) “If Assisted Suicide is made legal in the UK does that make it ethical?” (v) “Does Hitler’s Nazi Germany have nothing to teach Great Britain?”

Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH [felix@konotey-ahulu.com]

Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 9 Harley Street Ltd, Phoenix Hosp[ital Group, London W1G 9AL

Competing interests: I am Christian but I do not refer to myself as “religious”.

1 Kmietowicz Zosia. Most religious followers support assisted suicide for the dying. BMJ 201`3; 346: f2855 (11 May, page 3) www.bmj.com/content/346/bmj.f2855?sso

2 Konotey-Ahulu FID. Liverpool care pathway BMJ and Channel Four News: Majority expert choice does not mean best choice.www.bmj.com/content/346/bmj.f1303/rr/634971 March 8 Rapid Response to “Nine out of 10 palliative care experts would choose Liverpool care pathway for themselves” Krishna Chinthapalli in BMJ 2013; 346: 1103 (March 2, pages 2-3) 

Competing interests: None declared

Article appeared in the BMJ - www.bmj.com/content/346/bmj.f2855/rr/645095

by Felix I D Konotey-Ahulu (May 12 2013)

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Updated Publications now on Sicklecell.md

Below are listed my latest publications that I have updated on my website. You can view them here http://www.sicklecell.md/publications_articles.asp

2012
311 Konotey-Ahulu FID. Epistaxis from sickle cell disease must not be forgottenwww.bmj.com/content/344/bmj.e1097/rr/576087 BMJ Rapid Response 28 March 2012

312Konotey-Ahulu FID. World Sickle Cell Day 19th June 2012 www.sicklecell.md/blog/?p=132Featuring (i) The Inheritance of Sickle Cell Disease (ii) The Person with Sickle Cell Disease (iii) The Teenagwer with Sickle Cell Disease (iv) The Adult with Sickle Cell Disease.

313 Konotey-Ahulu FID. Further Communication on “Sickle Cell Trait Misinformation and Disinformation” and Sickle Cell Terminology: Disease or Disorder? www.sicklecell.md/blog/?p=127April 16 2012
314Konotey-Ahulu FID. Should clinicians edit Wikipedia to engage a wider world web? At least two examples of inaccuracy dictate caution www.bmj.com/content/345/bmj.e4275/rr/598116 BMJ 14 August 2012 Rapid Response

315Konotey-Ahulu FID. Management of an acute painful sickle cell episode in hospital: NICE guidance is frightening1 Sept 7 2012 www.bmj.com/content/344/bmj.e4063/rr/599158 [42 references]

316Konotey-Ahulu FID. Almost a quarter of Royal College Fellows say their hospitals cannot deliver continuity care. And they boast of something called National Institute of Clinical Excellence? www.bmj.com/content/345/bmj.e4942/rr/601191 September 7 2012 BMJ Rapid Response

317Konotey-Ahulu FID. There is no evidence that I was born on a Saturday. PRIVATE THOUGHTS – Postgraduate Medical Journal of Ghana 2012 (September); Volume 1, Number 1, pp 32-33 [Pointing out that the increasing use of "There is no evidence that ..” in scientific debate is itself unscientific]

318Konotey-Ahulu FID Bring back good quality paper in the print BMJwww.bmj.com/content/345/bmj.e6396/rr/610395 BMJ Rapid Response 23 October 2012

2013

319Konotey-Ahulu FID. Diagnosis and management of pulmonary embolism.www.bmj.com/content/346/bmj.f767/rr/633072 BMJ Rapid Response 26 Feb 2013

320Konotey-Ahulu FID. Liverpool care pathway BMJ and Channel Four News: Majority expert choice does not mean best choice. March 8 2013 www.bmj.com/content/346/bmj.f1303/rr/634971BMJ Rapid Response to “Nine out of 10 palliative care experts would choose Liverpool care pathway for themselves” Krishna Chinthapalli BMJ 2013; 346: 1103 (March 2, pages 2-3)

321 Konotey-Ahulu FID. Christianity and Africa. New African 2013 March, page 4http://bit.ly/Z0eb1K

322Konotey-Ahulu FID. Importance of history in the diagnosis of pulmonary embolismwww.bmj.com/content/346/bmj.f1692 March 19
BMJ 2013; 366: F1692

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World Sickle Cell Day 19th June 2012

For World Sickle Cell Day 19th June 2012 it is worth reminding ourselves of the 4 consecutive articles I wrote for New African (London) in Jan/March/June/September 2001.

Click to view PDF Document

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Further Communication on “Sickle Cell Trait Misinformation and Disinformation” and Sickle Cell Terminology: Disease or Disorder?

 

Further Communication on “Sickle Cell Trait Misinformation and Disinformation” and Sickle Cell Terminology: Disease or Disorder?


From: An Appreciative and Concerned Reader [Email details withheld]
Sent: 12 December 2011 09:20
To: felix@konotey-ahulu.com
Subject: Sickle Cell Trait Misinformation and Disinformation

 

Dear Professor Felix Konotey-Ahulu,

 

First I would like to thank you for publishing such an authoritative article on the topic of Sickle Cell misinformation and the dangerous consequences to African people.

 

I would like your permission to reproduce the article on our website [details withheld]

 

However if I may make one suggestion and request for an editorial adjustment. It is the belief of our organisation that, at least in the UK the institutional reference of Sickle Cell Disorder as a ‘disease’ is also a contributory factor to the stereotypes and the detrimental prejudicial treatment African people receive in the medical field when the topic is being raised or researched.

 

As such we identify Sickle Cell (SS or SC) as a genetic blood disorder and not a ‘disease’.

 

Whilst Sickle Cell may be accurately classified as a genetic variation, in the case of AS and in some instances of SC there are no or very little adverse effects to qualify it as a substantive impairment of normal physiological functioning. Clearly the label ‘disease’ is redundant in this instance.

 

We appreciate that the definition is fluid and traditionally includes disorders but the labelling of those with Sickle Cell in this manner also adds significant and to our mind unnecessary adverse social and psychological factors.

 

Including unwarranted fears of transmission as if it were a virus.

 

Your thoughts on this matter would be greatly appreciated.

 

Peace

 

[Name & address mentioned but not published here]

 

Dear [Writer]

 

Thank you so much for writing. Your comments are important, very important, but as one who has lived with siblings who had inherited a beta globin gene variant from both our parents I cannot agree that what my parents called “this hereditary disease”, and my siblings themselves also called “this aching disease” should now be called “not a disease”.

 

On the contrary, in all the 3 International Achievers Conferences that I conducted (First at the Royal Society of Medicine in London 1993, Second in Accra 1995, and Third Accra 2010) the participants were glad to state that although they had/have an hereditary disease (ACHE gene from mother and ACHE gene from father, making them ACHEACHE), they had been able to achieve in life and do extraordinary things – sometimes better than their brothers and sisters who did not inherit ACHEACHE.

 

You have probably seen how I traced the sickle cell affliction or ailment (if we must avoid the word “disease”) in my own family for 9 successive generations from 1670 AD – http://www.konotey-ahulu.com/images/generation.jpg or http://www.sicklecell.md/images/generation.jpg Now, Writer, if my parents and ancestors of my Krobo Tribe in Ghana had refused to call Chwechweechwe/hemkom a disease, how would they have been able to name every single sufferer for more than 3 Centuries? Just look at the internet link yourself, and see the names of my 3 siblings with “the disease” (Generation VIII centre columns marked ‘R’ for Rheumatism inherited). The Tribal names (for example Aromolegun or Lakuregbee in Yoruba) describe the “disease” in West Africa. If some people do not want to use “disease” we can use the Yoruba “Aromolegun” but how many nurses and doctors in Europe will know what we are talking about? And if you say “Sickle Cell Blood Disorder” are many UK Doctors not calling Sickle Cell Trait a “Blood Disorder”?

 

I agree that although Diabetes is a disease, a sufferer would prefer to be said to “have Diabetes” to “suffering from Diabetes Disease”. I grant you that, so would my Patient Achievers prefer to be said to “suffer from Sickle Cell Anaemia”? Well, genetically, the term “Sickle Cell Anaemia” is reserved for “SS” where both mother and father donate the sickle cell gene “S”. The term “Sickle Cell Anaemia” cannot be used for someone who gets Haemoglobin “C” (an ACHE gene) from one parent, and sickle cell gene “S” (another ACHE gene) from the other parent, even though they too suffer severe cold season rheumatism. We call them “SC” phenotype, while Sickle Cell Anaemia persons are “SS” phenotype.

 

Looking after well over one thousand patients who ached in the cold rainy season in Ghana, it was clear that not all of the aching genes were “S”. Some were “C”; others were “D”, “F-hereditary”, “beta-Thalassaemia”, and so on but when inherited together with “S” from the other parent, those who suffer the aches, possess TWO aching haemoglobins, not one as in Sickle Cell Trait. Possessing one ACHE ‘S’ gene and one NORMAL ‘A’ gene does not cause the NORMACHE ‘AS’ person to have cold season rheumatism attacks called sickle cell crises.

 

So, Writer, as “A” is the Normal Adult Human Haemoglobin Type (never to be confused with Blood Group A), if it is inherited with “S” the person becomes “AS” (Sickle Cell Trait) which is neither a disease nor a disorder. If Normal Haemoglobin gene “A” is not present, then whatever other combination is inherited from the parents becomes “Hereditary Disease”, like ‘SS’, ‘SC’, ‘SD’, ‘Sbeta-Thalassaemia’, ‘CC’, and so on.

 

Each of these phenotypes has its peculiar characteristics but what is common to them is that they ALL ache in the cold rainy season. The peculiar characteristic of the “SS” is severe anaemia (inadequate blood level), this is why it, and it alone, is the phenotype called “Sickle Cell Anaemia”. A lady with “SC” phenotype cold season rheumatism who, because of heavy periods becomes severely anaemic is not called “Sickle Cell Anaemia”. She is said to have “Sickle Cell Disease ‘SC’ phenotype, with anaemia”.

 

The peculiar characteristic of the “SC” is not severe anaemia, but eye problems and bleeding into the eye. Sbeta-Thalassaemia persons suffer hip problems as well as cold season rheumatism. Now, in order to help my Ghanaian patients understand what I am just trying to explain to you, way back in 1973, I coined the term ACHEACHE to describe anyone who had inherited an ‘ACHE’ Haemoglobin from both parents, like three of the 11 children of my NORMACHE parents did.

 

Those of my patients who may not want to say things like “I have Sickle Cell Disease” do quite happily describe themselves as “I am ACHEACHE ‘SS’” or “ACHEACHE ‘SC’”. Other Achievers, some of whom became international lawyers were content to describe themselves as “I have Sickle Cell Anaemia ‘SS’” or “I suffer from Sickle Cell Disease ‘SC’”. They less prefer to be told they have a “Sickle Cell Disorder” – a term that unscrupulous Insurance companies love to extend to the Trait parents of ACHEACHE patients. No one has a just reason to look down on a person suffering from any disease, hereditary or otherwise.

 

If we change the terminology to “Sickle Cell Disorder”, as they do in the UK, the confusion is even greater. Many, many doctors whom I have met in the UK do a sickle cell test on someone and when the person turns out to be “AS” (Sickle Cell Trait), they then say things like “So and so has the Sickle Cell Disorder”. That kind of statement leads to the kind of misguided recommendation that “Negro travellers be tested for sickle cells for their own safety”. I hope this lengthy explanation helps a bit.

 

In conclusion, with “Abnormal Haemoglobins” genetically, we reserve the term “hereditary disease” for TWO ACHING HAEMOGLOBINS. The term “Sickle Cell Disease” is a Genetic Definition [Two gene variants or 2 abnormal haemoglobin genes] which can never be applied to the Trait [one gene variant]. As soon as “Disorder” comes into common use then if the blood test shows “Sickle Test Positive” the Trait (One ‘S’ gene) is considered (wrongly) as much a “disorder” as the two gene variant possessor.  One sickle cell gene plus one normal ‘A’ gene does not turn the owner ‘AS’ into a sufferer. Indeed, in Africa, the child with ONE aching gene is healthier than both the one with no aching genes at all (the “AA”) and the one with two aching genes (“SS”) because the ONE ACHE gene possessor does not get cerebral malaria in childhood as do the NO ACHE possessor (“AA”) and the two-ACHE possessor “SS”). This is the phenomenon known to produce what is called Balanced Polymorphism.

 

Go to my FAQ (Frequently Asked Questions) on my website www.sicklecell.md or www.konotey-ahulu.com to read the reason why the “AS” phenotype is so tough. How else could we have 100 million of them in Tropical Africa? Why have they not died out if they have a “blood disorder”?

 

And now to your final question: Do you have permission to re-publish my article on the “Misinformation and Disinformation on the Sickle Cell Trait”?

 

The answer is “Yes, on condition that you also publish your query on the use of the term “Sickle Cell Disease”, and adding this response of mine above to it which forbids you from altering “Disease” to “Disorder”.

 

Two further points:

 

(a) The burden of Sickle Cell Disease (ACHEACHE) in Greece, Turkey, and other Mediterranean Countries is huge. If the White population in those countries call the hereditary condition a disease, but we Black ACHEACHE people cannot be said to have a disease, what term do we suggest for doctors, and nurses, and health workers to understand what we are talking about? If the Sickle Cell Trait is called in NHS publications “blood disorder” how do we distinguish the Sickling Positive ACHEACHE “SS” sufferer from the Sickling Positive NORMACHE “AS” non-sufferer?

 

We should rather aim at treating the ACHEACHE persons properly (No Morphine; No Heroin) to have them achieve their full potential in life so they can say things like; “I am the best in my Class of 50, even though I suffer from Sickle Cell Disease”.

 

[My own personal fact: I am the second of 11 children of my NORMACHE parents. My immediate younger brother Jerry Tei was ACHEACHE (he took Papaa’s ACHE and Mamma’s ACHE genes) yet when it came to Mathematics he was far better than I was, and I myself was extremely brilliant at the subject, scoring the second highest ‘A’ in the Achimota School Cambridge School Certificate Additional Maths Exam in those days of 120 students in the exam. Therefore far from being ashamed of being told he had Sickle Cell Disease, my brother could always say “I shall thrash you at Arithmetic, Hemkom or no Hemkom” [‘Hemkom’ meaning Sickle Cell Disease]. Why can’t British patients also take that attitude? Why can’t they take the attitude which shows that this hereditary blood disease (affliction, disorder, ailment) is no barrier to excellent academic achievement?]  

 

(b) The more serious point is how publications in Britain label the Sickle Cell Trait a “Blood Disorder”. The question to ask is “How could a person with “blood disorder” compete with the rest of the world (as they did in the Olympic Games in Mexico City where the air was/is thin, and beat the whole world without dropping down dead?” The fact that experts in the UK can say the “Sickle Cell Trait” is a blood disorder is the reason why those of us from Africa who have seen more sickle cell traits than they have ever seen or ever can see in the UK (and lived with them in the same homes) need to continue speaking up and educating people. At least I am on record in the British Medical Journal May 27 2009 (Rapid Response) for criticising NHS material purporting to teach lay people about Sickle Cell Trait, but misleadingly referring to the NORMACHE phenotype ‘AS’ as a ‘Blood Disorder’. We can do no more than continue to point out misinformation and disinformation.

 

Yes, you can republish my material, but you do not have permission to editorially correct what I have said. Sure you can say “We do not agree with calling the inheritance of two abnormal haemoglobin genes ‘Sickle Cell Disease’”. But before you say that, Writer, remember that these definitions of what is ‘disease’ and what is not ‘disease’ were laid down by an International Committee.

 

“When in 1957 the Colonial Medical Research Committee Working Party on sickle cell trait and sickle cell anaemia recommended the use of the term ‘sickle cell disease’ the Committee meant it to denote any pathological condition that is in part attributable to sickling of the erythrocytes …including sickle cell anaemia, sickle cell Haemoglobin C disease, sickle cell Haemoglobin D disease, sickle cell beta-Thalassaemia, …” [Woodruff and Colleagues: Terminology of the hereditary haemoglobinopathies with haemoglobin variants. British Medical Journal, 1957 Volume 1, page 1235].

 

So, Writer, we do not unilaterally have a right to state that the term “sickle cell disease” should not be used, nor does the NHS Instruction Manual have a right to decide unilaterally to use the term “Sickle Cell Disorder” for Sickle Cell Trait. My ACHEACHE patients do not like the term ‘Disorder’. They would rather like to be said to have a hereditary disease than “blood disorder” even though our Geneva Committee used the word “disorder” to cover disease (ACHEACHE) phenotypes. They never meant it to be used for Sickle Cell Trait as the NHS Manual uses it. Well, whatever terms your ACHEACHE patients prefer to use, please use them, but point out that the cardinal confusion that arises from using “blood disorder” is that the vast majority of British Health workers will include “Sickle Cell Trait” (NORMACHE) in the “Blood Disorder” Group, which is the whole point in the first place of my “Misinformation/Disinformation” article. One wonders how many Sickle Cell Traits (NORMACHE) have also been aborted in the UK because these foetuses are officially categorized as possessing “Sickle Cell Disorder”.

 

But not even modern day haematologists (or patients) can change what was decided in 1957, and what we confirmed in Geneva in 1972. By “we” I mean the following: Professor Alexander Boyo, Professor Raymond Cabannes, Professor Hermann Lehmann, Dr P F Milner, Professor Bela Ringelhann, Professor D J Weatherall, Professor Italo Barrai, Professor Arno Motulsky, and Dr F I D Konotey-Ahulu [Special Expert Scientific Group on Treatment of Haemoglobinopathies and Allied Disorders, - Technical Report 1972, Volume 509, 83 pages]    

 

My advice for all intelligent Africans is to cultivate the use of the term ACHEACHE plus the phenotype, and NORMACHE plus the phenotype. So, taking my own family, my Trait parents were NORMACHE ‘AC’ x NORMACHE ‘AS’, and their 11 children receiving variously a NORM or ACHE from them became ACHEACHE ‘SC’ (3 of us), NORMACHE ‘AS’ (2 of us), NORMACHE ‘AC’ (2 of us), NORMNORM ‘AA’ (4 of us). It is up to us to educate our doctors to many of whom all this is very strange.

 

When you carefully go through all my publications from 1965 to 2011 http://www.sicklecell.md/publications (or http://www.konotey-ahulu.com/publications and you decide to republish anything let me know. You may always comment on the original publications but you do not have my permission to alter what I have said.

 

Press on with the good work.   

Have a Blessed Christmas! See my perennial Christmas Message http://bit.ly/cRcZ0s   

Felix Konotey-Ahulu MD(Lond) DSc(UCC) FRCP(Lond) DTMH(L’pool)             

Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 9 Harley St., Phoenix Hospital Group, London W1G 9AL.

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Sickle Cell Trait Misinformation and Disinformation

Sickle Cell Trait Misinformation and Disinformation
F I D Konotey-Ahulu MB BS MD(London) FRCP FGCP FWACP FTWAS DTMH

Just google or wikipediate “sickle cell trait” and you get a mixture of truth and error which latter has led to (i) selective abortion (ii) insurance injustice (iii) social humiliation (iv) sports ban (v) employment exclusion (vi) clinical mismanagement and (vii) coroners’ perversion of truth. When misinformation turns “sickle cell trait” into “sickle cell disease” the consequences can be dire. Disinformation is deliberate misinformation. When terms like “congenital-abnormality” and “genetic-defect” mean different things to different people, confusion reigns. Wrong ethics plus wrong definitions of congenital or genetic defect make me revisit “abortion for sickle cells” and the Sickle Cell Trait Controversy.

WHO DEFINES “CONGENITAL ABNORMALITY” THAT NEEDS ABORTION?

“When fetal congenital abnormalities are present abortion is a valid therapeutic medical procedure” [1] was Dr Saripanidis’ response to Helen Watt who found it “heartening that so many medical students show at least some unwillingness to carry out abortion, a procedure which lethally affects the health of the fetal child (congenitally abnormal or otherwise”) [2]. Saripanidis’ “congenital abnormality” may be different from others’. Watt was responding to Zosia Kmietowicz who had reported “a fifth of medical students object to abortion for congenital abnormality” [3].

ETHICS DIVIDES EQUALLY BRILLIANT EXPERTS

I once described my Mendellian Dominant extra digits as being of no consequence, but which for a tribe east of us a child born with them was, to our disgust, promptly drowned [4]. Two Fellows of the Royal Society read my likening British doctors who advised prenatal diagnosis and selective abortion for sickle cell disease to “scientific tribesmen” behaving in a way that we Krobo people found reprehensible. Publishing my case in their Genetics books Sir David Weatherall mentioned the ethical implications in a chapter on ETHICS [5]. The other professor did not bother to mention Ethics in relation to Genetics [6]. My own position is well known. [4, 7-12] Pregnancies have been terminated for cleft palate. Extra digits are liable to be prenatally detected and fetus aborted. Making sickle cell trait a disease exposes it to an abortion programme because the received wisdom in the UK is prenatal diagnosis with advice for selective abortion.

SICKLE CELL TRAIT CONFUSED WITH SICKLE CELL DISEASE

Sickle Cell Trait (1 normal ß-globin gene ‘A’ plus 1 ß-globin variant gene ‘S’) is being confused with Sickle Cell Disease (2 ß-globin variant genes at least 1 of which is the sickle cell gene ‘S’). Look at these statistics:

(a) Among over 170 million Nigerians more than 35 million have Sickle Cell Trait ‘AS’.

(b) Ghana’s population of 25 million has 5 million sickle cell traits ‘AS’

(c) Of 6000 medically qualified West African doctors (Nigerian 4,500 and Ghanaian 1,500) working in the USA 1,500 have Sickle Cell Trait (‘AS’)

(d) One in 5 of Nigerian, Ugandan, and Ghanaian doctors in the UK are sickle cell trait.

(e) Korle Bu Teaching Hospital in Accra sees over 100,000 patients annually of whom 20,000 are Sickle Cell Trait (‘AS’)

(f) One in 5 diabetics, 1 in 5 hypertensives, 1 in 5 liver failures, 1 in 5 kidney failures, 1 in 5 suddenly-dropped-down-deads, and 1 in 5 stammerers have the sickle cell trait “AS”, because 1 in 5 of the southern Ghanaian healthy population is sickle cell trait “AS”.

Against this background we have:

(a) Elliott Vichinsky: “Renal medullary carcinoma is a rare and aggressive tumor that is seen almost exclusively in young patients with sickle cell trait” [13].

(b) Charis Kepron, Gino Somers, Michael Pollanen: “Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy” [14]

(c) Nigel Key, Vimal Derebail: “During exercise, Sickle Cell Trait appears to be a risk factor for sudden death and/rhabdomyolysis, particularly when the exercise is intense, and is performed at high altitude …” [15]

(d) Tsaras G, Owusu-Ansah A, Boateng FO, Amoateng-Adjepong, Y: “Complications associated with sickle cell trait: a brief narrative review”. [16]

So 100 million African sickle cell traits, millions in southern Turkey (1 in 5 Eti-Turks are ‘AS’), Mediterranean people with millions of ‘AS’ Trait [17-20], plus millions in India’s Madhya Pradesh and Orissa with 43% ‘AS’ Trait [21] are in some danger? Insurance injustice apart, the next step would be to advise aborting any fetus with Hb ‘S’ in it.

“UP-TO-DATE” AND “NOVEL” INSIGHTS ARE OUT OF DATE

Forty years ago exactly the then BMJ Editor Dr Martin Ware helped to retract a sickle cell trait inaccurate publication that caused furore [22-29]. No author has mentioned the 10 Addae’s Criteria required to be fulfilled before someone attributes symptomatology to sickle cell trait [24]. Witkowska et al published that sickle cell trait and sickle cell disease co-existed in the same person [30]. Elliott Vichinsky [13] failed to pick up the genetic heresy of 4 ß-globin genes in one person. I had warned that Witkowska’s patient did not have sickle cell trait but ‘Sickle Cell Haemoglobin Quebec-Chori’ disease [31] which “made it vital for clinicians to probe further any case of sickle cell trait where the symptoms suggest sickle cell disease” [31]. To provide excuse to include the sickle cell trait phenotype in an abortion programme is frightening.

CLINICAL EXPERIENCE MUST SUPERINTEND HAEMATOLOGICAL EXPERIENCE

My views here are not those of a novice. Professor Helen Ranney once said: “There is no single clinical experience in the United States comparable to that of Dr Konotey-Ahulu” [32]. Our family named sickle cell disease patients from 1670 Anno Domini http://www.konotey-ahulu.com/images/generation.jpg correctly identifying phenotypes Chwechweechwe/Hemkom (Sickle cell Disease) “SC” as “pi-gbagblaa”, and “SS” as “gbagblaa” [33 34 38]. Directing the largest Sickle Cell Disease Clinic in the world [34], I could guess the 4 sickle cell disease phenotypes correctly (‘SS’, ‘SC’, SF’, SßThal’) without haemoglobin electrophoresis [34 35]. That was how Haemoglobin Korle-Bu and Haemoglobin Osu-Christiansborg were discovered [36, 37]. We even knew that the commonest cause of severe sickle cell crisis was malaria [34 39], yet erroneous statements like “Sickle Cell Disease protects against malaria” persist.

HISTORY BEHIND CONFUSION WITH SICKLE CELL TRAIT DEFINITION

When Itano discovered Haemoglobin C in 1951 [40], the riddle was solved of seeing sickle cell disease symptomatology in someone who was wrongly routinely referred to as “Sickle Cell Trait” (1 ß-globin gene variant ‘S’ plus 1 normal ß-globin ‘A’) because the blood of one of the parents of the “SC disease phenotype” (2 ß-globin gene variants) did not sickle. Moreover when the ‘AS’ pattern represents 2 abnormal genes as in Sickle Cell ß-plus Thalassaemia, or as in Sickle Cell Haemoglobin Quebec-Chori disease, clinical experience more than haematological experience is what is required to prevent wrong interpretations. [Read that again, and again, please]
Furthermore, the sickle cell colour test does not distinguish between Sickle Cell Trait ‘AS’ and Sickle Cell Hb C disease ‘SC’ [41], and has thus wrongly attributed death to Sickle Cell Trait. I was once guilty of rushing to publication only to be corrected by Dr E J Watson-Williams who advised Family Studies [34, p. 364]. I then discovered to my shame [42] that the man who had died in London during a minor eye operation was “SC phenotype”, not sickle cell trait “AS” phenotype.

IMPLICATIONS FOR SICKLE CELL TRAIT REDEFINED AS SICKLE CELL DISEASE

ABORTION ADVICE is one consequence. INSURANCE PUNISHMENT is another. I was given 4 body guards in Philadelphia for my Keynote Address at The Martin Luther King Jr Foundation Award Ceremony. The title was “Difference between Sickle Cell Trait and Sickle Cell Disease” [43]. Insurance companies wanted the difference blurred. Approached by Professor Bowman in the USA about the Sickle Cell Trait [44] they admitted to loading the trait’s premium. [44] “It is my understanding” says Bowman “that insurance companies test only Blacks for the sickle cell trait” [45]. Did these authors (13-16) exclude Hb Quebec-Chori masquerading as normal Hb ‘A’? Was Hb ‘S’ quantified in all their publications? How many patients had G6PD quantified as 1 in 5 Ghanaian males and 1 in 16 females have total G6PD Deficiency [46 47 48] which affects the kidney adversely [49 50 51]? How many Family Studies were done?

IN SPORT ARE ALL NATIONALITIES PHENOTYPED “FOR THEIR OWN SAFETY”?

Are white skinned Americans included in sickle cell screening before sports? Nobel Laureate Professor James Watson’s great grand parent was an African. [52 53] As 1 in 3 West Africans had a ß-globin gene variant ‘S’ or ‘C’ [10] could Watson have either? Regarding advice given [22] to screen “Negro travellers” at airports for sickle cells for their own safety Dr Djabanor asks regarding White sickle cell traits: “How do we identify them from their external features to thrust upon them the benefits of this advice?” [23]

HAEMOGLOBIN ‘S’ IN TRUE SICKLE CELL TRAIT IS BETWEEN 20% AND 39.7%

Of 82 consecutive sickle cell traits that emerged out of over 400 consecutive West Africans I saw in London that Professor Hermann Lehmann phenotyped for me the 3 known bands of Hb ‘S’ percentages were clearly demonstrated, with the highest percentage less than 40%, and the lowest haemoglobin ‘S’ value was as little as 20% [54]. Are these the levels of Hb S that we are told millions around the world stand in danger from? Writing to The London Times exactly 40 years ago Lehmann confirmed that sickle cell traits competed in the Olympic Games in Mexico City at 7000 ft above sea level and no sudden deaths occurred. Chicago University’s Professor James Bowman said : “Persons with sickle cell trait will no longer be able to become ill or even die lest they find themselves subject of case report” [55], and a Black man beaten to death by police was claimed by the Coroner to have died from sickle cell trait. Professors Simon Dyson and Gwyneth Bosswell recount similar experiences [56]. Social humiliation resulted with suggestion [22] that “Negro travellers” be tested at airports for sickle cells before flight “for their own safety”. Acute appendicitis was misdiagnosed as abdominal sickle cell crisis because sickle cell test was positive, and employment was refused on the grounds of “sickle cell trait”. I found 15 flaws [57] in the article on the 5-year old boy who died and was found with “multiple inflicted injuries” and aspiration pneumonia, only to be published as “Sickle cell trait mimicking multiple inflicted injuries” [14]. My Sickle Cell Trait chapter [34 pp 349-371] deals comprehensively with similar anomalies.

BALANCED POLYMORPHISM AND AFRICAN ANTHROPOGENETICS

We know that the true ‘AS’ [NORMACHE] can be tougher than phenotype ‘AA’ [NORMNORM] because in the toddler age group we find no cerebral malaria child with sickle cell trait [58], which fact is the basis of the Balanced Polymorphism phenomenon [34 pp. 91-108], about which there is so much ignorance [59]. To assess the Hardy Weinberg Equation of gene frequencies without reference to the genetic index ‘MPSI’ that I once invented, and to polygamy [60 61 62], is to ignore African realities.

TRANSPARENCY AND ABSENCE OF PREJUDICE REQUIRED

Why all of a sudden such concern that “for their own safety” sickle cell traits should not be allowed to run competitively? And has there been an attempt to find out why Black families are increasingly refusing prenatal screening in the UK? [63] Is this reluctance related to the rumour that a Teaching Hospital screened a West African mother who refused abortion when told baby would be ‘SS’ but when born was found to be ‘AA’, and “Laboratory Error” was claimed as reason for the misinformation 7 months previously? [63] Medical Practice is known to have been marred in time past by racial prejudice [64 65 66 67], so one needs to ask what proportion of the medical students “object to abortion for congenital abnormality” [1 2 3] not just for ethical reasons but also because they are from ethnic minority groups that harbour suspicions?

Competing interests: I not only carry a congenital abnormality, Mendellian dominant extra manual digits, but I am also one of 11 children of parents both of whom were Traits for beta-globin variant genes [NORMACHE], resulting in 3 siblings born with Sickle Cell Disease [ACHEACHE], 4 with Trait [NORMACHE] and 4 with “AA” [NORMNORM] – see www.konotey-ahulu.com/images/generation.jpg

Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 9 Harley Street, Phoenix Hospital Group, London W1G 9AL [E-mail: felix@konotey-ahulu.com
Website: http://www.sicklecell.md]

1 Saripanidis Stravos. Abortion is a valid therapeutic medical procedure. BMJ Rapid Response 30 October 2011. Re: BMJ 2011; 343.doi: 10.1136/bmj.d4717.1

2 Watt Helen. Doctors should not refer for harmful elective procedures. Rapid Response 26 July 2011. Re: BMJ 2011; 343.doi: 10.1136/bmj.d4717.1

3 Kmietowicz Zosia. A fifth of medical students object to abortion for congenital abnormality. 22 July 2011. BMJ 2011; 343.doi: 10.1136/bmj.d4717.1

4 Konotey-Ahulu FID. Ethical issues in prenatal diagnosis. BMJ Clin Res Ed 1984; 289(6438)185 http://www.bmj.com/cgi/reprint/289/6438/185-a.pdf July 21 doi:10.1136/bmj.289.6438.185-a

5 Weatherall D J. Ethical issues and related problems arising from the application of the new genetics to clinical practice. Chapter 12 In The New Genetics and Clinical Practice. Oxford University Press (Third Edition) Oxford 1991, pages 347-48.

6 Jones Steve. The Language of Genes; Biology, History, and Evolutionary Future. Flamingo 1993, London, page 285.

7 Konotey-Ahulu FID. Ante-natal diagnosis of haemoglobinopathies. Lancet 1977; 1: 597-598.

8 Konotey-Ahulu FID. Ethics of amniocentesis and selective abortion for sickle cell disease. Lancet 1982; 1(8262): 38-39. January 2.

9 Konotey-Ahulu FID. Missing the wood for one genetic tree? The First International Symposium on the Role of Recombinant DNA in Genetics – Proceedings – Chania, Crete, Greece, May 13-16 1985. Eds Loukopoulos D, Teplitz RL; Athens, P. Paschalidis 1986, pages 105-116.

10 Ringelhann B, Konotey-Ahulu FID. Hemoglobinopathies and thalassemias in Mediterranean areas and in West Africa: Historical and other perspectives 1910 to 1997 – A Century Review. Atti dell’Accademia dell Science di Ferrara 1998; 74: 267-307 Milan

11 Konotey-Ahulu FID. Antenatal screening for sickle cell disease and beta-thalassaemia. http://www.bmj.com/content/341/bmj.c5132/reply#bmj_el_242914 BMJ Rapid Response Oct 12 2010

12 Konotey-Ahulu FID. Antenatal sickle cell disease/haemoglobinopathy screening. BMJ Rapid Response http://www.bmj.com/content/341/bmj.c5243/reply#bmj_el_243447 October 25 2010

13 Vichinsky Elliott P. Sickle cell trait. Literature Review UpToDate [Accessed 18 Feb 2011] http://www.uptodate.com/contents/sickle-cell-trait?view=print

14 Kepron Charis, Somers Gino R, Pollamen Michael S. Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy. Journal of Forensic Sciences Volume 54, No.5, pp 1141 t0 1145 September 2009.

15 Key Nigel S, Derebail Vimal K. Sickle Cell Trait: Novel Clinical Significance. Hematology 2010: 418-422.

16 Tsaras, G, Owusu-Ansah A, Boateng FO, Amoateng-Adjepong, Y. Complications associated with sickle cell trait: a brief narrative review. American Journal of Medicine 2009; 122(6): 507-512.

17 Aksoy M. Sickle cell trait in Southern Turkey. Lancet 1955; 1: 589-90.

18 Atlay C, et al. Haemoglobin S and some other hemoglobinopathies in Eti-Turks. Human Heredity 1978; 28: 56-61.

19 Choremis C et al. Sickle cell anaemia in Greece. Lancet 1951; 1: 1147.

20 Choremis et al. Blood groups of a Greek community with a high sickling frequency. Lancet 1957; 2: 1333-34.

21 Roy DN, Chaudhuri RSK. Sickle cell trait in the tribal population in Madhya Pradesh and Orissa (India). Journal of Indian Medical Association, 1967; 49: 107-112.

22 Green RL, Huntsman RG, Serjeant GR. Sickle cell trait and altitude. Br Med J 1971; 4: 593-595.

23 Djabanor F F T. Sickle cell trait and altitude. Brit Med J 1972; 1: 113

24 Addae R O. Sickle cell trait and altitude. BMJ 1972; 1: 53. [10 criteria required to satisfy clinicians in regions where 1 in 5 people have the sickle cell trait that symptoms are due to the trait]

25 Konotey-Ahulu FID. Sickle cell trait and altitude. Brit Med J 1972; 1: 177-178.

26 Lehmann Hermann. Sickle cell and flying. The Times (London), 4th January 1972.

27 Konotey-Ahulu FID. An international sickle cell crisis. [Editorial] Ghana Medical J; 1972; 11: 4-8

28 Konotey-Ahulu FID. Sickle cell trait and altitude. BMJ 1972; 2: 231-32 April 22

29 Green RL, Huntsman RG, Serjeant GR. Sickle and altitude. Brit Med J. 1972; 2: 294

30 Witkowska HE, Lubin BH, Beuzard Y et al. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for haemoglobin S and haemoglobin Quebec-Chori. New England Journal of Medicine 1991; 325: 1150-1154. [Note that the title of this article is incorrect: No human being can be said to have both Sickle cell trait and Sickle Cell Disease. The ‘AS’ pattern is sickle cell trait pattern, but this ‘A’ is not a true ‘A’ but the new haemoglobin called Quebec-Chori, producing a disease phenotype, not trait.]

31 Konotey-Ahulu FID. Beware of symptomatic sickle cell traits. Lancet 1992; Feb. 29, p 565. [Re: The enigma of Haemoglobin Quebec-Chori]

32 Ranney Helen M. Summary of Symposium. In Sickle Cell Disease, Editors H Abramson, J F Bertles, Doris Wethers [C Mosby Co., St Louis] 1973, p 320.

33 Konotey-Ahulu FID. Sickle cell disease in successive Ghanaian generations for three centuries. Chapter 2 pp 6-20 in The Sickle Cell Disease Patient: Natural History from a Clinico-epidemiological study of the first 1550 patients of Korle Bu Hospital Sickle Cell Clinic. Macmillan Press Ltd, London 1991 & 1992 and T-A’D Co Ltd Watford 1996.

34 Konotey-Ahulu FID. The Sickle Cell Disease Patient: Natural History from a Clinico-epidemiological study of the first 1550 patients of Korle Bu Hospital Sickle Cell Clinic. Macmillan Press Ltd, London 1991 & 1992 and T-A’D Co Ltd Watford 1996

35 Konotey-Ahulu FID. Patterns of clinical haemoglobinopathy. E Afri Med J 1969 Mar; 46(3): 149-156. PMID: 5800410 [PubMed – indexed for MEDLINE]

36 . Konotey-Ahulu FID, Gallo E, Lehmann H, Ringelhann B. Haemoglobin Korle Bu (alpha2 beta2 73 Aspartic Acid –> Asparagine), showing one of the two amino acid substitutions of Haemoglobin C Harlem. J Med Genet 1968 June; 5(2): 107-111. & http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1468514 An example of intra-genic cross-over [Also see G-Accra http://lib.bioinfo.pl/pmid:5722880 ]

37 Konotey-Ahulu FID, Kinderlerer, JL Lehmann H and Ringelhann B. Haemoglobin Osu-Christiansborg. A new chain variant of Haemoglobin A (beta 52 D3 Aspartic Acid –> Asparagine) in combination with Haemoglobin S. Journal of Med Genet 1971 Sep; 8(3): 302-305. http://pubmedcentral.nih.gov/picrender.fcgi?artid=146917&blobtype=pdf or http://lib.bioinfo.pl/pmid:5097135

38 Konotey-Ahulu FID. The Sickle-cell Diseases: Clinical manifestations including the Sickle Crisis http://archinte.ama.assn.org/cgi/reprint/133/4/611-pdf . Arch Intern Med 1974; 133(4): 611-619.

39 Konotey-Ahulu FID. Malaria and sickle-cell disease BMJ 1971 June; 2(5763): 710-711 doi:10.1136/bmj.2/5763.710-d http://www.bmj.com/cgi/reprint/2/5763/710-d.pdf

40 Itano HA. A third abnormal haemoglobin associated with hereditary hemolytic anemia. Proc Nat Acad Sci (Washington) 1951; 37: 775-84

41 Konotey-Ahulu FID. Detecting sickle cell haemoglobin. Brit Med J 1972; 4: 239

42 Konotey-Ahulu FID. Blushing in the black skin. (Invited Editorial) Journal of Cosmetic Dermatology April 2003; 2 (2), 59-60 [PMID: 17156057 PubMed]

43 Konotey-Ahulu FID. Four bodyguards and the perils of unmasking scientific truths. BMJ 2007; 335: 210-211. http://www.bmj.com/cgi/content/full/335/7612/210 (July 28)
doi:10.1136/bmj.39268.553021.47 Print http://www.bmj.com/cgi/reprint/335/7612/210.pdf
[Day & Date: Wednesday 31st May 1972 – Philadelphia, Dr Martin Luther King Jr Foundation Award Ceremony for Outstanding Contributions in Sickle Cell Disease: Banquet - My Keynote Address was on ‘Difference between Sickle Cell Trait and Sickle Cell Disease’. Those also honoured present on the platform with me included Nobel Prize Winners Linus Pauling and Max Perutz, then Hermann Lehmann, Roland Scott, J V Neel, Bella Ringelhann, A C Allison, James Bowman, Helen Ranney, Charles Whitten, Samuel Charache, L Diggs, L Conley, Sam Charache & Graham Serjeant].

44 Konotey-Ahulu FID. Insurance and genetic testing. Lancet 1993, 341: 833. March 27

45 Bowman James. Ethical, legal, and humanistic implications of sickle cell programs. INSERM 1975; 44: 353-378.

46 Ringelhann B, Dodu SRA, Konotey-Ahulu FID and Lehmann H. A survey for haemoglobin variants, thalassaemia and Glucose-6-Phosphate Dehydrogenase Deficiency in Northern Ghana. Ghana Med J 1968; 7: 120-124.

47 Konotey-Ahulu FID. Hereditary qualitative and quantitative erythrocyte defects in Ghana: An historical and geographical survey. Ghana Med J 1968; 7: 118-119 (Editorial 35 references). [First time Chwechweechwe and other tribal names were identified as Sickle Cell Disease]

48 Owusu SK. Glucose 6 Phosphate dehydrogenase (G6PD) deficiency in the causation of disease in Ghana. Ghana Med J. 1974; 13: 168-70

49 Owusu SK. Absence of glucose 6 phosphate dehydrogenase in red cells of an African. Brit Med J 1972; 4: 25-26

50 Owusu SK, Addy JH, Foli AK, Janosi M, Konotey-Ahulu FID and Larbi EB. Acute reversible renal failure associated with glucose-6-phosphate dehydrogenase deficiency. Lancet 1972 June 10; 1(7763): 1255-1257.

51 Adu D et al. Acute renal failure and typhoid fever in Ghana. Ghana Med J 1975; 14: 172-74.

52 Verkaik Robert. Scientist who sparked racism has black genes. The Independent, London. 10 December 2007. [Re: DNA Nobel Laureate Professor James Watson]

53 Konotey-Ahulu FID. There is but one human race. New African, London. Dec 2009, No. 490, page 4.[Re: James Watson who with Francis Crick won Nobel Prize on DNA]

54 Konotey-Ahulu FID. Alpha-Thalassaemia nomenclature and abnormal haemoglobins Lancet 1984; 1: 1024-25 May 5 [“Of 82 consecutive sickle cell traits seen in London in 24 months 36 (44%) had just one quarter of the total haemoglobin as sickle haemoglobin (mean 25%, range 20-28%) ..The three known peaks of haemoglobin S proportion in the West African sickle cell sickle cell trait are around 25%, around 30& and around 38%”)

55 Bowman JE, Bernstein S. Caution about preliminary reports. Pediatrics 1977; 59: 639-40.

56 Dyson Simon, Bosswell Gwyneth. Sickle Cell and Deaths in Custody. Whiting and Birch, London: June 2009; 230 pages “The misuse of Sickle Cell Trait to explain away sudden deaths”.

57 Konotey-Ahulu FID. Blaming sudden death on Sickle Cell Trait? Flaws in article of Charis Kepron, Gino Somers and Michael Pollanen Exposed. September 4 2011. . www.sicklecell.md/blog/?p=105 or www.konotey-ahulu.com/blog/?p=105

58 Commey JOO. Absence of sickle cell trait in 30 consecutive cases of cerebral malaria in Ghana when 6 expected. [Observations in 1986 see Reference 33, page 95] See also Konotey-Ahulu FID. Balanced polymorphism and other factors relating to hereditary qualitative and quantitative erythrocyte defects. Chapter 8, pp 91-108 in Reference 34, and also Chapter 30 Percentage values of haemoglobins S, F, A2 C, A, in various sickle cell phenotypes, and a consideration of the sickle cell trait pp 349-370]..

59 Konotey-Ahulu FID. Malaria and sickle cell: “Protection?” Or “No Protection?” – Confusion reigns. http://www.bmj.com/cgi/eletters/337/oct01_3/a1875#203067 BMJ Rapid response 13 October 2008

60 Konotey-Ahulu FID. Male procreative superiority index (MPSI): The missing co-efficient in African anthropogenetics. BMJ 1980; 281(6256): 1700-1702 http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1715685&blobtype=pdf doi:10.1136/bmj.281.6256.1700 December 20 – 27 1980 http://www.bmj.com/cgi/reprint/281/6256/1700.pdf

61 Konotey-Ahulu FID. The Male Procreative Superiority Index (MPSI): its relevance to genetical counseling. In FIFTY YEARS OF HUMAN GENETICS A Festschrift and liber amicorum to celebrate the life and work of GEORGE ROBERT FRASER Edited by Oliver Mayo and Carolyn Leach. Wakefield Press 2007 (www.wakefieldpress.com.au) 1 The Parade West, Kent Town, South Australia 5067)

62 Bonney GE and Konotey Ahulu FID. Polygamy and genetic equilibrium. Nature 1977; 265: 46-47 (January 6 1977). doi:10.1038/265046a0

http://www.nature.com/nature/journal/v265/n5589/abs/265046a0.html

63 Konotey-Ahulu FID. Konotey-Ahulu FID. Refusing to provide a prenatal test for refusing later termination of pregnancy can it ever be ethical? BMJ Rapid Response November 20 2006 http://www.bmj.com/cgi/eletters/333/7577/1066#149662

64 Muller-Hill Benno. Murderous Science. Elimination by Scientific Selection of Jews, Gypsies, and Others – Germany 1933-1945. [Translated from German by G R Fraser] Oxford, Oxford University Press, 1988.

65 Clinton President WJ. Apology on behalf of the American Government to 8 survivors of the Tuskegee Syphillis experiment victims. World-wide radio and television PBS News Hour Newsreel Announcement (Jim Lehrer and Charlayne Hunter-Gault) May 16 1997

http://www.pbs.org/newshour/bb/health/may97/Tuskegee_5-16.html

66 Tanne Janice Hopkins. President Obama apologizes to Guatemala over 1940s syphilis study. BMJ 341: doi:10.1136/bmj.c5494 October 4 2010

67 . Konotey-Ahulu FID. President Obama apologizes over Guatemala syphilis study: International co-operative research and practice in jeopardy. Rapid response BMJ 17 October 2010 http://www.bmj.com/content/341/bmj.c5494.full/reply#bmj_el_243183

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Blaming sudden death on Sickle Cell Trait?

Blaming sudden death on Sickle Cell Trait?
Flaws In Article Of Charis Kepron, Gino Somers and Michael Pollanen Exposed.

Felix I D Konotey-Ahulu MD(Lond) FRCP(Lond) DTMH(L’pool) FGCP FWACP FTWAS

Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, Ten Harley Street, London W1G 9PF. [Founder & Co-Director of KÁGÈ SICKLE CELL FOUNDATION www.sicklecell.md & felix@konotey-ahulu.com]

“Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy” is the title of an article published in the Journal of Forensic Science 1. I do not know which expert reviewed and passed this article for publication but the 20% of healthy Ghanaians with sickle cell trait have good reason to protest at such a flawed article masquerading (as the authors Charis Kepron and others put it) “the first to describe sickle cell trait pathology as a mimic of a non-accidental injury”1.

The defects of this article are very many:

(i) Mentioning sickle cell disease (scd) and sickle cell trait (sct) in the same breath betrays clinical ignorance. References 1 and 2 on “sickle cell disease” quoted by Kepron and colleagues in support of a “sickle cell trait” article are therefore totally irrelevant.

(ii) Ponder the following statement of the authors: “Sudden unexpected death in a 5-year old child due to pulmonary complications of sickle cell trait in whom the pattern of bone lesions seen at autopsy mimicked multiple inflicted injuries”.1 Now, 1 in 5 of all Ghanaian children at home and abroad who may be found to be traumatised and left with broken bones will be found to be sickle cell trait because 20% of the rest of the healthy Ghanaian population are also sickle cell trait ‘AS’. So does that mean the bone defects seen in this Ghanaian child in Canada can be attributed to sickle cell trait?

(iii)   The child had complained of a painful leg, and was said to have had “mild tissue swelling” and yet the X-ray films were not “retrospectively reviewed”.1 Why?

(iv)   There was no family study of sickling in a case report of such importance. What were the levels of Haemoglobin ‘S’ in the mother and/or the father?

(v)   The haemoglobin electrophoretic report is flawed. Add up the various fractions quoted in the publication and you get 100% [Hb A = 74.9%, Hb S = 23.2%, Hb F = 1.9%], but where is Haemoglobin A2? How could reputable haematologists, paediatricians, and pathologists forget Hb A2 in such an electrophoretic report?

(vi)   Autopsy showed the Right lower lobe of the lung to be (in their own words) “pale, congested, consolidated, and focally haemorrhagic”.  The question is this: Are these pneumonic changes never seen in children who do not have sickle cell trait? In other words, does sickle cell trait have to be invoked to explain such pathological changes?

(vii)   “A layered dissection of the posterior para-spinal muscles of the neck” say the authors “showed focal areas of soft tissue haemorrhage”1 and yet they blame these changes on sickle cell trait, ruling out child abuse?

(viii)   The authors Charis Kepron, Gino Somers and Michael Pollanen report that “Both lungs contained foreign material in keeping with aspiration of gastric contents”, the classical residue for an aspiration pneumonia that could kill a child instantly, yet the sudden death was attributed to sickle cell trait by these authors?

(ix)   Staphylococcus aureus was cultured from both lungs, and yet complicated staphylococcal pneumonia was not suggested as the cause of sudden death, but the sickle cell trait with just 23.2% of sickle cell haemoglobin ‘S’ ?

(x)   The authors state that the sickle cell trait “can be a cause of acute complications normally associated with sickle cell disease including the acute chest syndrome”.1 This ex cathedra statement is simply not true. The sickle cell trait ‘AS’ had run at Olympic Games at Mexico City over 7000 ft where the air is thin and oxygen concentration is lower than at sea level, and these sickle cell traits ‘AS’ (or NORMACHE as I call them) had competed with and beaten the whole world. And the authors couple this ‘AS’ phenotype with Sickle Cell Disease phenotype (ACHEACHE)? Moreover, people of all nationalities without sickle cell trait die suddenly from aspiration pneumonia, so why should a sickle cell trait child behave differently?

(xi)   Invoking acute chest syndrome as cause of death in a sickle cell trait child stems more from ignorance of what has been termed “acute chest syndrome”. The term was coined only in recent decades to explain breathing problems in sickle cell disease patients. This diagnosis assumed huge proportions only when Morphine and Diamorphine constituted the recommended prescription to treat pain of sickle cell crisis in the UK and the USA2. The NCEPOD Report of the United Kingdom revealed that  “Nine out of the 19 patients with sickle cell disease who had pain on admission and who then died had been given excessive doses of opiods” (meaning morphine and diamorphine)“ 3, 4, 5. Now, for Kepron and colleagues to invoke the acute chest syndrome as contributory to the Ghanaian child’s sudden death in Canada was just scraping the barrel to link sickle cell trait to the sudden death. Quoting Vichinsky and colleagues 6 in support of their acute chest syndrome proposition was a mistake because Vichinsky’s paper failed to diagnose the devastating role of opiates (Morphine and Diamorphine) in the causation of the chest syndrome due to the opiods’ respiratory depressive effect on the very patients who needed oxygen to survive. 5

(xii)   The authors’ references 11 and 12 in the article that they cite to blame acute chest syndrome on sickle cell trait failed to take cognisance of the ten Addae’s Critreria 7 which must be met before serious symptomatology is blamed solely on sickle cell trait. For instance, the sickle cell trait must not be blamed for serious symptomatology without quantification of Hb A2 and yet Kepron and colleagues did not even mention Haemoglobin A2 let alone quantify it.

(xiii)   It is quite surprising how facts that should have made Kepron and colleagues look elsewhere, rather made them fixate on sickle cell trait because they were determined to do just that. Take for example their statement “Although the clinical information required for a diagnosis of acute chest syndrome was missing …” histologic findings were used by them to “prove” acute chest syndrome, and they stated that “acute chest syndrome was felt to be the major contributing factor to the cause of death”.1 Does the phrase “was felt” have any place in scientific discussion? Should we be concerned with how we “feel” when debating scientific topics, or should we rely on facts alone?

(xiv) The final statement of their inauspicious article says it all; it betrays a deliberate desire to link the un-linkable: “Although Sickle Cell Disease/Sickle Cell Trait is not one of the classic mimickers of child abuse, unusual orthopaedic pathologies can and do occur, and may appear as  inflicted injury on skeletal survey”1.

(xv)   The authors Kepron, Somers, and Pollanen fail to do their home work in the country that discovered Haemoglobin Quebec-Chori. This haemoglobin masquerades as normal adult Haemoglobin ‘A’ but which when tagged on to sickle cell haemoglobin does not produce sickle cell trait ‘AS’ (ie NORMACHE by my terminology), but rather sickle cell disease (ACHEACHE). This was how I put it in The Lancet in a communication entitled ‘Beware of symptomatic sickle-cell traits’: 8

“With the sickle cell population increasing yearly in the UK, the finding by Witkowska and colleagues9 of sickle cell Haemoglobin Quebec-Chori genotype producing a sickle cell disease phenotype masquerading electrophoretically as a sickle cell trait makes it vital for clinicians to probe further any case of sickle cell trait where the symptoms suggest sickle cell disease.9 Many individuals with true sickle cell trait ‘AS’ (betaA3[6Glu; betaA3[6Glu à Val]) with ‘A’ greater than ‘S’ have been victimised in respect to employment and life insurance because of substandard medical reports in journals”. 10, 11

 

The authors of this present article do not appear to have read about Haemoglobin Quebec-Chori which was first discovered in their own country Canada.9

 

LESSONS DRAWN FROM THIS ‘JOURNAL OF FORENSIC SCIENCE‘ ARTICLE

 

1. Battles that have been fought and won in the Sickle Cell Trait controversy can suddenly be resurrected, so there is need to be vigilant. Forty years ago, based on a false report by authors who had never been to Ghana, on a Ghanaian sickle cell trait during the 45-minute flight from Kumasi to Accra it was suggested that for their own safety “Negro passengers” should be tested at airports for the sickling phenomenon “for their own safety”12 Ghanaian experts exposed not only the falsehood of the report13, but also were instrumental in reversing draconian measures that were being taken world wide based on that false report. Black pilots and air crew had been grounded at Kennedy Airport in the USA because of the false report. It was Ghanaian expertise that restored them to flying duties, and forced the case report publication in the British Medical Journal to be withdrawn.14 [See the detailed account in FAQs – Frequently Asked Questions on my website www.konotey-ahulu.com or www.sicklecell.md] 15

2. University of Illinois Professor of Medicine and Pathology Dr James Boweman MD and Dr S. Bernstein observing the spate of journal articles linking all kinds of symptoms with the sickle cell trait were forced to exclaim when a Black man beaten to death in police custody was found to be sickle cell trait, and the death was then attributed to the sickle trait: “Persons with sickle cell trait will no longer be able to become ill or even die lest they find themselves subject of a case report”.10 This prediction of Boweman and Bernstein in 1977 regarding bogus articles has sadly been fulfilled through this flawed case report of Charis Kepron and colleagues.1

3.   New attempts are being made presently (in this year of 2011) to ban sickle cell traits from competing in athletics because sudden death has been linked (spuriously) to the sickle cell trait phenotype as recounted in my book.11 My website FAQs have dealt with the flawed articles cited in this respect. If someone who does not sickle dies from exercise, that is considered natural, but when sickle cell trait is found in the person, then it is not considered “natural” – it must be due to the sickle cell trait. Banning 20 per cent of all Ghanaian international athletes (and Black competitors in general) from global athletics “for their own safety” is seriously being considered by some scientists of World Bodies. Some of them talk about “Black Sickle Cell Traits” forgetting that 1 in 6 of the White people in southern Turkey 16, 17 and up to 30% of the white people in Greece around where Lake Kopais was had been shown to have the sickle cell trait (‘AS’) 18, 19 leading Ghana’s Dr Frank Djabanor once to ask in the British Medical Journal: “How can we identify them by their external features to thrust upon them the benefits of this advice”? 20, namely the advice that Negro passengers should be tested at airports for sickle cell trait “for their own safety” 12 The term “Black Sickle Cell Traits” must be banned, because there are millions and millions of “White Sickle Cell Traits”. Insurance Companies, and International Sports Federations need to take note of that. If they do not, they must be held to account. Indeed I once pointed out 21 that when contacted in the USA by Professor James Boweman “about the harmless sickle cell trait”, 41% of 39 insurance companies admitted to loading the trait premium. “It is my understanding” added Boweman “that insurance companies generally test only Blacks for the sickle cell trait”.22

4.   What I have said above is no joking matter. African doctors should be aware of global trends that are inimical to their welfare. Articles like that of Kepron et al encourage Insurance Companies to load the premium of Sickle Cell Traits because of the unjustified and unscientific published statements like “Complications of Sickle Cell Disease/Sickle Cell Trait are not usually on the differential diagnosis of traumatic injury”.1

5   Articles such as we find here in the Journal of Forensic Science are likely to be quoted by inexperienced clinicians and pathologists in support of their equally flawed findings. This must not be allowed to happen. Fortunately, wise editors such as are found for The British Medical Journal and The Lancet in England always go back to correct errors in previous publications whenever these were later pointed out to them. “We therefore wish to withdraw this case”14 was how Green, Huntsman and Serjeant removed the unsubstantiated “sickle cell trait intestinal infarction” case from publication. Family studies have shown that a case I once thought was sickle cell trait (NORMACHE), was in fact the Ghanaian sickle cell haemoglobin C disease patient (ACHEACHE) who was a banker and who died under anaesthesia in a London hospital during eye surgery. I challenge the editors of Journal of Forensic Science, in the light of what has been said above, to state that the case for child abuse in their case report of the second autism child that they described could not be dismissed, and I urge that these authors’ conclusion that their findings could be attributed to sickle cell trait be dismissed forthwith.

6   There are huge financial interests involved if the true sickle cell trait ‘AS’ (NORMACHE) who beat the whole world at athletics is equated with sickle  cell disease pathology, allowing insurance companies to benefit at the expense of healthy people. As Cambridge University’s Professor Hermann Lehmann, the doyen of Abnormal Haemoglobin research in the UK, wrote to the London Times when the false sickle cell trait story was published on December 9 1971 advocating the removal of sickle cell traits from flying duties: “The sickle cell trait is, in some Africans much more rare than in the population of, say Crete or Coimbatore” and he went on to say that “sickle cell carriers competed without ill effect at the Olympic Games at Mexico at an altitude of 7000 ft”23 Fancy then a Black athlete coming down from Mexico City to New York at sea level and be told that his Health Insurance premium would go up to 150% because some researcher had published that exercising at 4000 ft had caused death in a sickle cell trait! For the world to be told at the Martin Luther King Jr Foundation Award Ceremony in 1972 in Philadelphia in the presence of Abnormal Haemoglobin Nobel Prize winners Linus Pauling and Max Perutz, that Insurance Companies in the USA were benefiting unfairly from the “Sickle Cell Trait sudden death at 4000 ft” story – a story that lacked scientific veracity – for the world to be told this -  was too much of a risk to take so the organisers of the Award Ceremony provided me whom they had invited to give the Keynote Address on “The difference between Sickle Cell Trait and Sickle Cell Disease” with four body guards for all the time I was in Philadelphia. Read the full story in the British Medical Journal.24

7   Finally, please wake up to the fact that modern researchers fail to recognise and quote thorough work that had been done decades ago. Any modern author that relies on a MEDSEARCH that contents itself with going back only 25 years is deceiving not only themselves but also the rest of us. Professors George M Edington and Hermann Lehmann did such meticulous Abnormal Haemoglobin research in the Gold Coast (Ghana) nearly 60 years ago as has hardly been equalled in thoroughness. 25-29 What these giants of Abnormal Haemoglobin Research said about Sickle Cell Trait and Sickle Cell Disease all those decades ago has not been bettered by any subsequent work that I know of. Yet modern authors like Kepron and colleagues not only do not refer to them, but rather claim to have discovered new insights into how sickle cell traits present. Professor Bela Ringelhann and I have summarized (with no less than 225 references) much of this and subsequent work.30 Ignoring this material because much of it was published decades ago is doing a great deal of disservice not only to Medical Science but also to us West Africans 1 in 3 of whom is carrying a beta-globin gene variant (NORMACHE).

References

1   Kepron Charis, Somers Gino R, Pollamen Michael S.             Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy. Journal of Forensic Science Volume 54, No.5, pp 1141 t0 1145 September 2009.

2   Konotey-Ahulu FID. Morphine for painful crisis in sickle cell disease. Brit Med J 1991; 302: 1604

3   Mayor Susan. Enquiry shows poor care of patients with sickle cell disease. Brit Med J 2008; 336: 1152

4  NCEPOD (National Confidential Enquiry into Patient Outcome and Death) .. produced an 84-page report entitled ‘SICKLE: A Sickle Crisis? (2008)’ The Report (www.ncepod.org) ‘reviews the circumstances around deaths of in-patients with Haemoglobinopathies – sickle and beta-thalassaemia in the 21st Century in England, Wales, Northern Ireland, and the off-shore islands’…’Nine out of the 19 patients with sickle cell disease who had pain on admission and who then died had been given excessive doses of opiods’’.  Death that was put down to “Acute Chest Syndrome” clearly was due to respiratory depression from the drugs which further produced in vivo sickling.

5   Konotey-Ahulu FID. Poor care for sickle cell disease patients: This wake up call is overdue BMJ Rapid Response May 28 2008 BMJ 2008; 336: 1152 http://www.bmj.com/cgi/eletters/336/7654/1152a#196224 to Susan Mayor “Enquiry shows poor care for patients with sickle cell disease” on National Confidential Enquiry into Patient Outcome and Death (NCEPOD) REPORT “SICKLE: A Sickle Crisis? (2008) info@ncepod.org

6   Vichinsky EP, Neumayr LD, Earles AN, Williams R, Lennette ET, Dean D, et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. New England J Medicine 2000; 342(25): 1855-66.

7   Addae RO. Sickle cell trait and altitude. Br. Med J 1972; 1: 53.

8   Konotey-Ahulu FID. Beware of symptomatic sickle cell traits. Lancet 1992; February 29, p 555.

9   Witkowska HE, Lubin BH, Beuzard Y et al. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for haemoglobin S and haemoglobin Quebec-Chori. New England Journal of Medicine 1991; 325: 1150-1154. [Note that the title of this article is incorrect: Sickle cell trait cannot also be referred to as sickle cell haemoglobin Quebec Chori disease. The ‘AS’ pattern is sickle cell trait pattern, but the ‘A’ here is not a true ‘A’ but the new haemoglobin called Quebec-Chori, producing a disease phenotype, not a trait phenotype].

10   Boweman JE, Bernstein S. Caution about preliminary reports. Pediatrics 1977; 59: 639-640.

11   Konotey-Ahulu FID. “Percentage values of haemoglobins S, F, A2, C, A in various sickle cell phenotypes, and consideration of the Sickle Cell Trait”, In The Sickle Cell Disease Patient: Natural History from a Clinico-epidemiological study of the First 1550 patients of Korle Bu Hospital Sickle Cell Clinic. Macmillan London 1992 & T-A’D Co Watford 1996, Chapter 30, pages 349 to 371.

12   Green RL, Huntsman RG, Serjeant GR. Sickle cell and altitude. Br Med J 1971; 4: 593-595.

13   Konotey-Ahulu FID. An International Sickle Cell Crisis. Ghana Medical Journal 1972; 11: 4-8.

14   Green RL, Huntsman RG, Serjeant GR. Brit Med J 1972; 2: 294

15  Konotey-Ahulu FID. Frequently Asked Questions (FAQs) in www.sicklecell.md or www.konotey-ahulu.com 2001 – 2011.

16   Aksoy M. Sickle cell trait in Southern Turkey. Lancet 1955; 1: 589-590.

17   Altay C, et al. Haemoglobin S and some other hemoglobinopathies in Eti-Turks. Human Heredity 1978; 28: 56-61.

18   Choremis  C et al. Sickle cell anemia in Greece. Lancet 1951; 1: 1147

19   Choremis C et al Blood groups of a Greek community with a high sickling frequency. Lancet 1957; 2: 1333-34

20   Djabanor F F T. The Sickle Cell Trait and Altitude. Brit Med J 1972. 1: 113.

21   Konotey-Ahulu FID. Insurance and genetic testing. Lancet March 3 1993, page 833.

22   Boweman J E. Ethical, legal and humanistic implications of sickle cell programs. INSERM 1975, 44: 353-378.

23   Lehmann Hermann. Sickle cell and flying. The Times (London), 4th January 1972, editorial page.

24   Konotey-Ahulu FID. Four body guards and the perils of unmasking scientific truths. Brit Med J 2007; 335: 210-211, July 28.

25   Edington GM. Sickle cell anaemia in the Accra district of the Gold Coast. A review of 20 cases. Brit Med J 1953; 2: 957-961

26   Edington GM, Lehmann H. Expression of the sickle cell gene in Africa.  Brit Med J 1955a; 1: 1308-11

27   Edington GM, Lehmann H. Expression of the sickle cell gene in Africa. Brit Med J 1955b; 2: 1328

28   Edington GM, Lehmann H. The sickle cell gene. Am J Clin Path 1956a; 26: 553-56

29   Edington GM, Lehmann H. Sickle cell trait in Africa. Bull WHO1956b; 15: 837-852

30   Ringelhann B, Konotey-Ahulu FID. Hemoglobinopathies and thalassemias in Mediterranean areas and in West Africa: Historical and other perspectives 1910 to 1997 – A Century Review. Atti dell’Accademia dell Science di Ferrara (Milan) 1998; 74: 267-307.

Acknowledgements: I thank Professor Simon Dyson for drawing my attention to the article of Charis Kepron and colleagues. Professor Dyson has done much to alert people to the harm that unfair publications on sickle cell states can do. I recommend his websites for study.

Simon Dyson is Professor of Applied Sociology

Room 1.27 Hawthorn Building

De Montfort University

Leicester LE1 9BH

+44 (0)116 257 7751

sdyson@dmu.ac.uk

http://www.tascunit.com

http://www.sicklecelleducation.com

http://www.sicklecellanaemia.org

 

See for instance his book: Sickle Cell and Deaths in Custody

http://www.amazon.co.uk/Sickle-Deaths-Custody-Simon-Dyson/dp/1861771150

 

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Only fruitcakes believe in GOD? Correction of inverted inheritance of solomonic genius

Re:Re: Luc Montagnier … and Andrew Wakefield: living parallel lives
Felix ID Konotey-Ahulu, Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast Ghana
Consultant Physician Genetic Counsellor in Sickle Cell & Other Hemoglobinopathies 10 Harley St London W1G 9PF
Only fruitcakes believe in God? Correction of inverted inheritance of solomonic genius
British Medical Journal Rapid Response 12 May 2011 http://www.bmj.com/content/342/bmj.d2642/reply#bmj_el_260496

In my rushed rapid response to Mark Struthers’ remark (9 May) that believers in God were/are fruticakes [1] I made King David of Jerusalem the recipient of solomonic genius, when he was in fact the father of the legendary King Solomon. Sorry about that. David’s Psalms are still worth reading as they are full of extraordinary wisdom, including his published diagnostic observations in Psalm 14 verse 1, and Psalm 53 verse 1. Some will say King Solomon inherited the brilliance of his father, but Scripture implies something more profound, indeed something suprascientific. [3]
F I D Konotey-Ahulu MD FRCP DTMH
Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast, Ghana
and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 10 Harley Street, London W1G 9PF
felix@konotey-ahulu.com
Conflict of interest: Nothing to declare
1. Struthers Mark. Re: Luc Montagnier … and Andrew Wakefield: living parallel lives BMJ Rapid Response 9 May 2011 http://www.bmj.com/content/342/bmj.d2642/reply#bmj_el_260294
2. Konotey-Ahulu FID. Only fruitcakes believe in GOD? BMJ Rapid Response 11 May http://bmj.com/content/342/bmj.d2642/reply#bmj_el_260425
3. Second Book of Chronicles, Chapter 1 verses 7 to 12.
Competing interests: None declared
Submit rapid response
Published 12 May 2011

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