FOUR THINGS YOU MUST READ ON SICKLE CELL DISEASE PATIENT

FOUR THINGS YOU MUST READ ON SICKLE CELL DISEASE PATIENT

This information for all ages has helped many families.

  1. Konotey-Ahulu FID. The inheritance of Sickle Cell Disease. New African January 2000, pp 40-43
    http://www.konotey-ahulu.com/pdfs/sicklecell_jan2001.pdf
  2. Konotey-Ahulu FID. The Person with Sickle Cell Disease. New African March 2001, pp 38-39.
    http://www.konotey-ahulu.com/pdfs/sicklecell_mar2001.pdf
  3. Konotey-Ahulu FID. The Teenager with Sickle Cell Disease. New African. June 2001, pp 40-42
    http://www.konotey-ahulu.com/pdfs/sicklecell_jun2001.pdf
  4. Konotey-Ahulu FID. The Adult with Sickle Cell Disease. New African Sep. 2001, pp 40-43.
    http://www.konotey-ahulu.com/pdfs/sicklecell_sep2001.pdf
    Also http://www.questia.com

Remember that these sickle cell disease children, teenagers, and adults have inherited from their parents other genes to make them brilliant, beautiful, and much else. They must be looked after properly to make them use their brilliant genes to become ACHIEVERS in life.

See www.sicklecell.md and learn.

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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.

——————————————————————————————-

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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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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