Male Procreative Superiority Index (MPSI)

Male Procreative Superiority Index (MPSI): 500 children born to just 17 sperm donors

The mathematical Genetic Index that I invented more than 30 years ago “Male Procreative Superiority Index (MPSI)” [British Medical Journal 1980 Volume 281 (6256) pages 1700 to 1702] was meant to explain not only the very high Sickle Cell Trait frequency in certain populations through Polygamy, but also to indicate male superior contribution to what the Daily Telegraph Science Editor (May 7 Front page & page 7) called other “defective genes” in her article “500 children born to just 17 sperm donors”.

But in another article in Journal of Genetic Disorders & Genetic Reports May 13 2014 “History Versus Limits of Science: Is Solomonic Genius a Y Chromosome Phenomenon?” I went further to show that since 1901 Nobel Prizes have been awarded to more than 800 individuals of whom at least 180 (22%) have been recipients of genes from King Solomon – wisest man on earth – who “had seven hundred wives, princesses, and three hundred concubines” [1Kings chapter 11 verse 3]. His MPSI was enormous. The fact that Jewish women’s Nobel Prize winners is a whopping 38% among the world’s females is, I said, “not that solomonic genius resides in the Y chromosome, but that it allows many more offspring than the female”.

Talk these days of Gender Equality is misplaced. Nine seconds and the male’s contribution to baby formation is complete. Females require 9 months! Any reader of this post on Facebook or Linked-In can, by using known relatives like male-female adult twins, prove conclusively that the male twin has in many cases and in any society more children than his sister, thanks to the menopause that halts further female procreation.

Take in Europe even, the divorced male twin who may marry again, and again, and again, does he stop having children with a younger wife simply because his twin sister had her menopause a decade ago? Or take my own Africa, how many women have the same number of children as the man who made them pregnant? Gender Equality makes no procreative sense either in Europe or in Africa. The mathematically minded among us may Google my article “MPSI” and study how the Index can be derived. Also read “History versus Limits of Science: Is Solomonic Genius a Y Chromosome Phenomenon?” to appreciate that the particular gene in question does not have to be in the man’s Y chromosome, but (as I said in the article) “it allows many more offspring than the female”.

Two further points (a) and (b) arise from my MPSI which did not escape one world-class geneticist. In his 2007 book “FIFTY YEARS OF HUMAN GENETICS – A Festschrift and liber amicorum to celebrate the life and work of GEORGE ROBERT FRASER” Oxford University’s world-class Geneticist Professor George Fraser (Remember Fraser Syndrome?) thought my MPSI important enough to include it as one chapter in this 568-page book under the title: “The Male Procreative
Superiority Index (MPSI): It’s relevance to genetical counselling ion Africa”. What was the point I made that has eluded many scientists?

(a) In that chapter I pointed out that something like Prostate Cancer that textbooks mention as having a genetic preponderance among Africans at home and in the Diaspora can be explained with the African’s generally high MPSI. I said (page 49): “As Africans are living longer, the husband with common diseases compatible with lifespan of appropriate length, such as essential hypertension, diabetes mellitus, gout, and even prostate cancer, might in the same way account for more genetic pathology in future generations than would be passed on by any of his wives”. Could Chinese low incidence of prostate cancer be due to the men once forced by Law to have just one child?

(b) Has present severe pressure on African countries for same sex marriage not got more to do with Population Control than Human Rights? MPSI would be meaningless!

Felix I D Konotey-Ahulu, MD FRCP DTMH, Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana.

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Facebook Enquirer November 2017

Facebook enquiries

Look at www.sicklecell.md for correct terms.

What do you mean by sicklecell?
Sickle Cell Trait (Normal gene + Abnormal gene)? Or do you mean sickle cell disease (Abnormal gene + Abnormal gene)?
To simplify things, I call Normal gene NORM and Abnormal gene ACHE because it takes 2 Abnormal genes (ACHEACHE) to make someone ache with the pain of sickle cell crisis. So, sickle cell trait is NORMACHE.

On my www.sicklecell.md Home Page you will see the kanad I invented to explain what happened when my Trait father NORMACHE married my Trait mother NORMACHE. They had 11 children of whom 3 had ACHEACHE, suffering sickle cell disease. Four of us were NORMACHE like our parents (no problems) and 4 also had no problems with NORMNORM.

It is important that readers of this Facebook each find out what Haemoglobin genes have been inherited from their parents. If, like my 3 siblings, any has inherited abnormal (ACHE) haemoglobin gene from each parent then there is no NORM gene to protect from body ache under certain circumstances. I never advise a person with ACHE Haemoglobin gene not to marry someone else, remembering that my parents would have been advised not to marry as some American States are keen to legislate.

Study the kanad video, and come to your own decision. People with sickle cell disease (ACHEACHE) have inherited some brilliant genes from their parents, like beauty, elegance, brains, and become ACHIEVERS in life as we have seen in Ghana. Visit my website, and take time with my Genetic Counselling and Voluntary Family Size Limitation (GCVFSL) http://bit.ly/1w3BuvM
Please get back to me if you can’t access it.

Finally, Sickle (S) is not the only aching gene we can be born with. The second commonest abnormal Haemoglobin aching gene is “C”. Test for “S” alone (Sickle Cell Test) is not enough. I always test for other genes, not just for Sickle Cell Trait. You can be Sickle Test Negative (that is No “S”) and yet be “C” Positive, enabling you and your Sickle-Positive-“S” spouse to have a child who has two aching genes “S” + “C” to produce Hereditary Rheumatism (Sickle Cell Disease), never ever to be called “SC Trait”, but only to be known as “SC Disease”. Sickle Cell Trait is “AS”, never “SC”.

I was born surrounded by both so I know the difference. Note that Sickle Cell Disease ‘SS’ is the only phenotype known as Sickle Cell Anaemia. These terms which are not “Konotey-Ahulu terms”; but from WHO which does not recognise the term “Sickle Cell Anaemia Disease”. If you have ‘S’ from both parents you have “Sickle Cell Anaemia” (SS). If you prefer to say you have “Sickle Cell Disease” then you need to add the phenotype and say “I have Sickle Cell Disease (SS)”. If a lady has Sickle Cell Disease (SC) and develops severe anaemia from heavy periods doctors are not entitled to say she has Sickle Cell Anaemia. She is still “SC” and not “SS”. She has Sickle Cell Disease (SC) with Anaemia, but not “Sickle Cell Anaemia Disease”. [Please read this again!].

Be the one to teach your doctors if they are confused about these terms. I once mentioned how I referred a lady to have her gall stones removed by a world class Surgeon to whom I wrote this: “Please help this Sickle Cell Anaemia (SS) lady”. Less than one hour later in the same hospital he said he called and said to me: “Thank you Felix for sending me that delightful Sickle Cell Trait lady”. So even world-class Specialists don’t know WHO definitions of who has Trait (1 Normal Haemoglobin gene) and who has Disease (No Normal Haemoglobin gene).

TERMS EXPLAINED:

Sickle Cell Trait (1 Normal Gene A+1 Abnormal Gene ‘S’) I call NORMACHE which never gives Hereditary Aches. For Sickle Cell Disease (1 Abnormal Gene ‘S’+any Abnormal Gene ‘S’ or ‘Other’) I prefer ACHEACHE as S+S, S+C, S+D, S+K, S+Korle Bu, S+Osu Christiansborg, S+FPersistence, S+O, S+Kwahu, are all aching Sickle Cell Diseases. It takes 2 ACHES to cause ache.

NOTE CAREFULLY: Normal Haemoglobin ‘A’+Abnormal ‘S’ is Sickle Cell Trait (AS). Normal ‘A’+ Abnormal ‘C’ is Sickling Negative Haemoglobin C Trait (AC).

Haemoglobin gene ‘A’ is NOT to be confused with BLOOD GROUP ‘A’. These 2 genes labelled “A” have nothing to do with each other. To check for Abnormal Haemoglobins ask for “Haemoglobin Type”, not Blood Group.

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Sickle Cell Trait and Sickle Cell Disease

SICKLE CELL TRAIT and SICKLE CELL DISEASE

On Facebook 15th November 2017 responding to something on a site which described itself as “Sickle Cell Anemia Disease”, I wrote this:

“Please get your correct definitions of sickle cell disease and sickle cell trait from www.sicklecell.md Let no one deceive you re sickle cell trait. Study and learn”

I then got this message: “You know I have heard from people with sickle cell trait get pain once a year or something it’s not serious but I hear they still can have symptoms I mean it is blood line you know”.

Visiting www.sicklecell.md proved to some doctors that sickle cell disease has often been wrongly called sickle cell trait, and vice versa, with serious consequences.

“Pain once a year” is no proof of sickle cell trait. Millions of people around the world who do not have sickle cell trait have pains more than once a week!

Doctors writing SCT for sickle cell trait imply that “SC” is a Trait, which is wrong because “SC” is 2 Abnormal Haemoglobins – a disease phenotype. The Trait must have NORMAL Haemoglobin A plus S, and the “A” fraction must always be greater than the “S”. Sickle Cell Trait is written “AS Trait”, not SCT. If Electrophoresis shows “AS” (1 Normal gene A greater than S) and the person has symptoms like sickle cell disease then the person may well have Sickle Cell Quebec-Chori disease, with Hb Chori behaving like “A”. See [Konotey-Ahulu FID. Lancet February 29, 1992, page 555 http://bit.ly/2d18oOL

Beware of symptomatic sickle cell traits. Lancet, February 29, 1992, page 555.

http://www.thelancet.com/journals/lancet/article/PII0140-6736(92)90377-F/fulltext]

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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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Good evening Prof: Should I marry this person?

Question: Good Evening Prof, A lady friend of mine is with SC since birth and she loves this guy who is AS. Should she go on with the marriage even though there is a 50% chance of having sickly children?

Kanad
ANSWER:
Dear C.M., It is not my normal habit to advise who should marry whom, but as you can see from the kanad pictured above with male phenotypes on one side, and female on the other your friend is “SC” (abnormal Haemoglobin ACHE ‘S’ gene from one of her parents, and abnormal Haemoglobin ACHE ‘C’ gene from the other parent, making her ache with sickle cell crisis at certain times.

As you observed, when the dice ACHEACHE on one side is thrown against the dice NORMACHE on the other the probability for each throw of the dice is 1 in 2 (50%) for ACHEACHE to show because the man will show NORM or ACHE with each throw. The sequence is unpredictable because the man may show NORM (‘A’) several times or ACHE (‘S’) several times. Moreover, depending on whether the lady’s ACHE is an egg carrying ACHE ‘S’ or egg with ACHE ‘C’ the children of this union may be ‘AC’ NORMACHE, (‘A’ from the man, ‘C’ from the lady, ‘AS’ NORMACHE like your lady friend’s man, ‘SS’ ACHEACHE, or ‘SC’ ACHEACHE like your lady friend. Please read this statement again until you can explain it to your lady friend. Now, my book “The Sickle Cell Disease Patient” describes exactly such a situation where a Staff Nurse “SC” asked me whether she should go ahead and marry her lover “AS”. After explaining to her just as I have done here, she said to me: “Doctor, I am a nurse and I can care for him when he is unwell. Moreover you have told your patients how to keep out of sickle cell crisis so even if we have “SS” or “SC” children we can cope.” Remember that my kanad shown above (Konotey-Ahulu Norm Ache Dice) has two main functions:

They show you (i) What Could Happen ie PROBABILITY, and what is more important (ii) PREDICTABILITY ie What Will Happen.

If someone tells me: “Doc, I have suffered too much with this hereditary ailment. I do not want any child of mine to suffer like I am doing. Show me the phenotype that I can marry so that even though I have ACHEACHE my children will never have ACHEACHE”. Well, simple: Pick the dice marked NORMNORM and it is impossible to have an ACHEACHE child. But remember that some ACHEACHE people are brighter, more beautiful, and more focussed than their siblings who do not ache. The first option is Genetic Gambling. The second option is Predicting Genetic Certainty.

But here is a beautiful true story: One of my brilliant ACHEACHE “SS” ACHIEVERS fell in love with a NORMACHE “AS” (Sickle Cell Trait) lady. They decided to go ahead and get married hoping that the first child will be from the NORM egg of the lady, and his ACHE sperm, then they will stop, and adopt their second child. Well Mr H.S. engaged this lady, married her, and they had a son, lovely son with all the elegance of the father and the combined genius of both of them, NORMACHE “AS” Sickle Cell Trait. The couple went on to adopt a daughter.

So my duty is to show the difference between Genetic Gambling (Probability), and Genetic Prediction with 100 per cent certainty. If ACHEACHE marries ACHEACHE all the children will be ACHEACHE as shown on the cover of my blue book:

See my website www.sicklecell.md Those who choose Genetic Gambling because they are madly in love should know what could happen. They will limit their family size as Mr H. S. and his wife have done.

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Sickle Cell Trait Confusion: Is It Deliberate? Or Is This Ignorance?

Sickle Cell Trait Confusion: Is It Deliberate? Or Is This Ignorance?

I speak with authority as one who was born into a Sickle Cell Disease home within a Sickle Cell Trait country. One in every 5 of us in southern Ghana including nurses, doctors, business men and women, judges, liars, thieves, university professors, Parliamentarians, athletes, crooks, footballers, Olympic Medallists, and boxers has the Sickle Cell Trait.

In Northern Nigeria with a population of 90 million there are 30 Million Sickle Cell Traits. One in every three babies born there in Kano, Sokoto, Maedeguru is Sickle Cell Trait. And in Accra where I worked at the Korle Bu Teaching Hospital every 1 in 5 babies of the 13000 consecutive deliveries we tested in 12 months had Sickle Cell Trait.

What is more, 1 in every 3 of the white people in Greece where Lake Kopais used to be is Sickle Cell Trait! And now, lo and behold, “In Fontana August is Sickle Cell Trait Prevention Month”. Are they serious in suggesting Sickle Cell Trait needs preventing? Making 1 in 5 of us Ghanaians feel guilty for being born because we are Sickle Cell Trait? Even Sickle Cell Disease Patients need not feel guilty because they often have brilliant genes that their siblings do not possess.

Seriously, believe me, there are two kinds of readers of this Facebook post:

(1) Those who want to learn from me whom Nobel Laureate Professor Linus Pauling listened to when I delivered the Martin Luther King Award Lecture in Philadelphia on the Topic “The Vital Difference Between Sickle Cell Trait and Sickle Cell Disease”, and

(2) Those who prefer what Fontana teaches on Sickle Cell Trait.

For those who have time for me, please set time aside and study the following articles very, very, very carefully:

SICKLE CELL TRAIT

  1. Blaming sudden death on Sickle Cell Trait? http://bit.ly/1Eutn19 
  2. Sickle Cell Trait Misinformation and Disinformation http://bit.ly/1CqYHib
  3. Further Communication on Sickle Cell Trait Misinformation and Disinformation and Sickle Cell Terminology: Disease  or Disorder?          http://bit.ly/1Gm4gNP 
  4. World Sickle Cell Day 19h June 2014 http://bit.ly/1FuNXPi 
  5. Beware of symptomatic sickle cell traits. Lancet, February 29, 1992, page 555. http://bit.ly/2d18oOL
    http://www.thelancet.com/journals/lancet/article/PII0140-6736(92)90377-F/fulltext
  6. Dangerously flawed diagnosis of sickle cell trait in compartment syndrome rhabdomyolysis http://bit.ly/2d4t9Zd
    http://www.sicklecell.md/blog/index.php/2016/09/dangerously-flawed-diagnosis-of-sickle-cell-trait-in-compartment-syndrome-rhabdomyolysis-article/
  7. Sickle Cell Trait: As with statins when leading editors disagree please give principles same weight as details/
    http://www.sicklecell.md/blog/index.php/2016/09/statins-when-leading-editors-disagree-please-give-principles-same-weight-as-details/
    http://bit.ly/2dy5fUJ
  8.  http://bit.ly/2bRQ7B1    Tafracher BMJ 8th June 1975

This Ghanaian word Tafracher allows me to call a spade a spade, as it were. [It allows me to say articles describing Sickle Cell Trait as Sickle Cell Disease are (Tafracher) rubbish for how can a Sickle Cell Trait man run at 7000 ft at Olympic Games and beat the whole world with a disease?] 

If you absorb all this information you can help your colleagues and even your doctors in saying exactly what Sickle Cell Trait is, and what it is not.

Felix Konotey-Ahulu FGA MD(Lond) FRCP(Lond) FRCP(Glasg) DTMH FGCP FWACP FTWAS Kwegyir Aggrey Distinguished Professor of Human Genetics, University Cape Coast Ghana, & Former Consultant Physician Genetic Counsellor Sickle Cell & Other Haemoglobinopathies, Korle Bu Teaching Hospital, Accra Ghana, and 9 Harley Street London W1G 9AL [ www.sicklecell.md ] Twitter Felix@profkonoteyahul

Further BMJ Links especially for doctors, nurses & science graduates.

  1. Overseas Med. Graduates bmj.com/content/356/bmj.j574/rr-0
  2. Routine Tests not to be abandoned bmj.com/content/357/bmj.j2091/rr-15
  3. BMA AGM 2017 On Abortion bmj.com/content/357/bmj.j3116/rr

Finally, Sickle (S) is not the only aching gene we can be born with. The second commonest abnormal Haemoglobin aching gene is “C”. Test for “S” alone (Sickle Cell Test) is not enough. I always test for other genes, not just for Sickle Cell Trait. You can be Sickle Test Negative (that is No “S”) and yet be “C” Positive, enabling you and your Sickle-Positive-”S” spouse to have a child who has two aching genes “S” + “C” to produce Hereditary Rheumatism (Sickle Cell Disease), never ever to be called “SC Trait”, but only to be known as “SC Disease”. Sickle Cell Trait is “AS”, never “SC”. I was born surrounded by both. I know the difference.

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World Sicklecell Disease Patient Week – Videos

World Sickle Cell Disease Patient Week

After a successful week of videos in July I have put them all together in one post for you to view.

Introduction
There is such an event called “World Sickle Cell Day” which falls in mid-June every year.

For me who had two brothers and one sister (Victor Agbetey, Jerry Tei and Sussie Konotey-Ahulu) with hereditary cold-season rheumatism or hemikom as this has always been known in my Krobo Tribe in Ghana as the name for Sickle Cell Disease – one day in a year is not enough attention given to a very important problem.

Day 1
Professor Konotey-Ahulu explains the reasons behind the Sicklecell Disease Patient Week and a bit about his history.

Day 2
Professor Konotey-Ahulu interviews an achiever of over 50 years old.

Day 3
Professor Konotey-Ahulu talks about the various African tribes which have various names for the Sicklecell disease. He also explains the difference between trait and the disease.

Day 4
Professor Konotey-Ahulu gives a round up of the videos published and a bit more history on what he found during his career.

Day 5
Professor Konotey-Ahulu continues to talk to an achiever on how he stopped the disease from taking over his life and reduced crises periods.

Day 6
Professor Konotey-Ahulu explains his dice (KANAD) and how it can help explain how people get the disease.

Day 7
An achiever Akosua M Dankwa talks about the Sicklecell Disease and how it has affected her life.

Books
The Sickle Disease Patient book is now on sale at a 50% discount. The book can now be purchased here http://blog.sicklecell.md/shop/ FREE KANAD dice with each purchase whilst stock lasts.

Links
Facebook Event – https://www.facebook.com/events/305588243201034
Books – http://blog.sicklecell.md/shop/

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World Sickle Cell Disease Patient Week – 20% off our books

World Sickle Cell Patient week

Today is the start of World Sickle Cell Disease Patient Week and we are offering 20% off our books till 31st August 2017.

To view the event on Facebook look out for my videos during the week starting today. https://www.facebook.com/events/305588243201034 

World Sickle Cell Disease Patient Week

Use the following code at the checkout WSCDPW2017 to get you 20% discount  plus an added bonus a special free gift of a pack of kanad (Konotey-Ahulu Norm Ache Dice) when you purchase a book from our store during the World Sickle Cell Disease Patient Week.

My books are available here http://blog.sicklecell.md/shop/

kanad (Konotey-Ahulu Norm Ache Dice)
Free gift when purchasing our books till 22nd July 2017
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World Sickle Cell Disease Patient Week

World Sickle Cell Disease Patient Week

WSCDPW [World Sickle Cell Disease Patient Week]

There is such an event called “World Sickle Cell Day” which falls in mid-June every year.

For me who had two brothers and one sister (Victor Agbetey, Jerry Tei and Sussie Konotey-Ahulu) with hereditary cold-season rheumatism or hemikom as this has always been known in my Krobo Tribe in Ghana as the name for Sickle Cell Disease – one day in a year is not enough attention given to a very important problem.

Therefore, I am from July 12 2017, God willing, devoting a whole week to what I am calling WSCDPW ie World Sickle Cell Disease Person or Patient Week – the P is for Person or Patient for, as I hope to show you, some-one with sickle cell disease does not have to be going in and out of hospital regularly and frequently.

So there will be something for 12, 13 14, 16 17, 18 of July, with 15th July as a rest day. During the week matters concerning the Person with sickle cell disease will be discussed. My greatest credential is that from the day I was born several decades ago I was within my immediate family and the extended family surrounded by sickle cell disease relatives – this credential of mine is more important than the fact that as a doctor, I ran the largest Sickle Cell Disease Clinic in the world at the Korle Bu Teaching Hospital. And indeed more important than the fact that with Professor Linus Pauling (discoverer of the molecular pathology of sickle cell haemoglobin for which he got the Nobel Prize) on the platform I was chosen from among 24 Dr Martin Luther Jing Jr Foundation Award Winners for Sickle Cell Research world-wide, to deliver the Award Dinner Lecture in Philadelphia on Wednesday 31st May 1972, the title of my Award Lecture being “The Vital Difference Between Sickle Cell Trait and Sickle Cell Disease”. This does not compare with the fact that I knew about the sickle cell disease patient before I read Medicine.

So, the fact that I was born into a home where my sibllings, and cousins, and aunts, and uncles suffered from sickle cell disease is why I dare to introduce a WSCDPW or World Sickle Cell Disease Patient Week. My aim is not to indulge in controversy. My sole aim, and I mean this, my sole aim is to tell those like my brothers and one sister who inherited an abnormal haemoglobin from both father and mother to give them sickle cell disease – to tell them that they have inherited other genes from the same parents that can produce great achievement in their lives. I shall be greatly privileged to introduce some of these ACHIEVERS to the world, and to help those struggling at the moment with pain and other problems how to succeed. My 643-page book describes no less than 130 real patients and their problems and how they have succeeded or not succeeded in tackling them. Watch this space! My website www.sicklecell.md also has much information.

Professor Felix I D Konotey-Ahulu [whose parents were Traits for Abnormal Haemoglobin genes and whose 3 siblings had sickle cell disease].
MB BS MD(Lond) FRCP(Lond) FRCP(Glasg) DTMH (L’pool) DSc(Hon UCC) FGCP FWACP FTWAS ORDER OF THE VOLTA (OFFICER)
Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast Ghana, and Former Consultant Physician Genetic Counsellor Korle Bu Teaching Hospital Ghana and 9 Harley Street, London W1G 9AL.

https://www.facebook.com/events/305588243201034

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Should we abandon routine blood tests?

Re: Should we abandon routine blood tests? No, not when hereditary erythrocytopathy poses a real problem in a so-called multi-racial population!

Should we abandon routine blood tests_fb

Should we abandon routine blood tests? No, not when hereditary erythrocytopathy poses a real problem in a so-called multi-racial population!

WEST AFRICANS NEED ERYTHROPATHIC TESTS BUT ONCE

The name “K Siau” [1] sounds Ghanaian from Kwahu Tribe, while the initial K could stand for any of the 7 Ghanaian Male Day-Names: Kwesi – Sunday to > Kwame – Saturday. [Our Kofi Annan was Friday-born]. If Siau is Ghanaian, then he may well be one of the “1 in 3 West Africans” who have inherited the abnormal haemoglobin gene ‘S’ or ‘C’, from one parent, not to mention the 1 in 4 males with Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency [2 3]. Millions of healthy West Africans in the UK have one gene for hereditary erythrocytopathy (abnormal haemoglobin S or C, plus or minus G6PD Deficiency) [4 5]. Routine blood tests performed just once can discern these [5]. UK is no longer entirely Caucasian therefore doctors need to unmask erythrocytopathy.

PROFESSOR MALCOLM MILNE AND THE CAUCASIAN’S SHOULDER

Orthopaedic Trainee Dr Alastair Faulkner [6] may have read my account [7] of a postgraduate ward round many years ago. After being asked to examine a white patient I gave my Clinical Impression: “This jaundiced Greek patient with pale nails, scars on one shoulder and right hypochondrium, and with limited straight leg elevation of right leg has avascular necrosis of the shoulder, avascular necrosis of one femoral head, and has had gall stones removed because of chronic haemolysis from Sickle Cell beta-Thalassaemia” [7] Duly impressed, Professor Milne produced laboratory results confirming my diagnosis proving that NOT ONLY BLACK PEOPLE SUFFER FROM SICKLE CELL DISEASE. In Greece, around Lake Kopais, the 30% incidence of sickle cell trait was higher than anywhere in Ghana [8-10]. Any new patient I ever had – Black, White, Hebrew, Asian or Indian must routinely have Haemoglobin Electrophoresis and G6PD test done and be given a Certificate of the findings.

PROBLEM WITH NHS TESTS

Dr Sam Lewis [11] mentions the “nit-picking rejection of lab requests” in the NHS. When Clinicians request certain tests, NHS Pathologists often decide which to accept and reject. While Locum Consultant Physician in a London Hospital I requested Haemoglobin Electrophoresis on a woman, only for the Pathologist to send a report: “Sickling Test Negative”. I protested I never asked for a Sickling Test; could I have Haemoglobin Electrophoresis, please? The Haematologist asked why if sickling test was Negative I wanted Haemoglobin Electrophoresis? I then told him I had in Ghana the largest collection of Homozygous Haemoglobin C Disease patients (CC) in the world (all sickling negative) and that it was a common cause of miscarriage in pregnant women [12] The Pathologist still refused to do the test so I sent the lady to a Private Lab where Haemoglobin CC Phenotype was confirmed. As husband was Sickle Cell Trait (AS) I counselled them, advising that they should expect to have Sickle Cell Disease (SC) and Haemoglobin C Trait (AC) offspring. [13]

DO ROUTINE TEST FOR GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY

Do not wait till patients complain of “passing urine like coca cola”. Always testing new patients for Abnormal Haemoglobins and G6PD Deficiency was how we discovered that G6PD Deficiency was not just a haemolysis problem, but could aggravate the course of typhoid fever, renal failure, muscle pain, duration of coma from any cause, and the prognosis of sickle cell disease. [2 3 14 -20]. That was how we discovered the first ever African with zero G6PD enzyme in his red cells – a phenomenon thought only to exist in Mediterranean Caucasians. [21 22]. Ringelhann [23], Beutler [24], James Bowman and Robert Murray [25] confirmed high levels of G6PD Deficiency in Blacks on both sides of The Atlantic. Luzzatto, examining 100 “SS” males found 16% to be G6PD Deficient [26]. As salmonellosis is common in sickle cell disease [27 28], and Chloramphenicol is contraindicated in G6PD Deficiency, this test requires doing for all sickle cell disease patients [19].

QUANTIFICATION TESTS BETTER THAN QUALITATIVE BUT NOT CHEAP

Relying only on G6PD Colour Tests would have missed our zero-enzyme patients. Quantification is vital for both Abnormal Haemoglobin and G6PD enzyme. That was how we knew that Sickle Cell Traits have 3 modes of Haemoglobin S (20-25%, 30-35%, 36-39.5%) [29] which fact enables us to distinguish the true Sickle Cell Trait (“AS” with S less than 40%) from Sickle Cell beta-plus Thalassaemia Disease (2 abnormal genes) with Sickle gene product way above 50% [28 29 30].
WHO and International Atomic Energy Agency grants funded our tests. [5 28].

SHOULD ANYONE BE REFUSED THESE ONCE ONLY ROUTINE TESTS?

I have described a white Englishman (Hb D Trait) married to a Ghanaian lady (Hb S Trait) and their 2 sickle cell disease daughters (Ref 28, Illustrative Case History 133). If NHS budget is unable to sustain such a routine test burden shall we not ask enquirers to go Private for their health’s sake? Dr K Siau believes while we needed to “avoid unnecessary repetition of blood tests” [1] some routine tests “should be considered part of holistic Medicine …” [1]. Three out of every 100 West Africans in the UK have inherited TWO ABNORMAL HAEMOGLOBIN genes causing hereditary disease capable of showing up in any Clinical Discipline [See the 133 Illustrated Case Histories in Reference 28] not to mention the non-haematological complications of G6PD Deficiency [2 3 20 28 29]. I once expressed disappointment when a seven-part series on genetic epidemiology by “three white professors began in The Lancet on September 10, 2005” [30] only for the series to end without once mentioning the genetic burden of west Africans in the UK. [29]. Will Dr K Siau now add our West African statistics to those of the “4000 Danish patients” he produced [1]? As I said in 1982, we needed to “unearth the hundreds of cases of SC sickle cell disease, some of whom are bread winners, before they are brought in dying or dead in their first crisis for 10 years” [31]

Conflict of Interest: My Parents Heterozygote for Abnormal Hbns (“AC” & “AS”) had 11 children: 3 Sickle Cell Disease “SC”, 2 Heterozygotes “AC”, 2 Heterozygotes “AS”, 4 Homozygotes “AA” [32].

felix@konotey-ahulu.com Twitter@profkonoteyahul

F I D Konotey-Ahulu MD(Lond) FRCP(Lond) FRCP(G) DTMH(L’pool) FGCP FWACP FTWAS
Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana. Former Consultant Physician/Genetic Counsellor in Sickle & Other Haemoglobinopathies, Korle Bu Teaching Hospital, Accra, Ghana and at 9 Harley Street, London WIG 1AA. [ www.sicklecell.md ]

References

1 Siau K. Should we abandon routine blood tests? BMJ Rapid Response 8 May 2017. http://www.bmj.com/content/357/bmj.j2091/rr-6

2 Owusu SK. Glucose 6 Phosphate Dehydrogenase Deficiency in the causation of disease in Ghana. Ghana Med J 1974; 13: 168-170.

3 Konotey-Ahulu FID. Glucose 6 Phosphate Dehydrogenase Deficiency and Disease Causation in Ghana. (Editorial) Ghana Medical Journal 1974; 13: 155-158.

4 Ringelhann B, Dodu SRA, Konotey-Ahulu FID. Lehmann H. A survey for haemoglobin variants, thalassaemia, and Glucose 6 phosphate dehydrogenase deficiency in northern Ghana. Ghana Med J 1968; 17: 120-124.

5 Ringelhann B, Konotey-Ahulu FID. Hemoglobinopathies and thalassaemias 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

6. Faulkner Alastair, Reidy Mike, McGowan James. Should we abandon routine blood tests? BMJ 2017; 357: j2091 www.bmj.com/content/357/bmj.j2091?sso=

7 Konotey-Ahulu FID. Hip pain and radiographic signs of osteoarthritis: Sickle cell and other haemoglobinopathy differential diagnosis. BMJ Rapid Response 8 January 2016 http://www.bmj.com/content/351/bmj.h5983/rr-2

8 Choremis G, Sickle cell anaemia in Greece. Lancet 1951; 1: 1147.

9 Choremis G. Sickle cell trait and blood groups in Greece. Lancet 1953; 2: 901-911.

10 Delyannis GA, Tavlarakis N. Sickling phenomenon in Northern Greece. BMJ 1955; 2: 299-301.

11 Lewis Sam. Should we abandon routine blood tests? BMJ Rapid Response May 4 2017 www.bmj.com/content/bmj.j2091/rapidresponses

12 Konotey-Ahulu FID. Homozygous Haemoglobin C Disease. In FID Konotey-Ahulu. The spectrum of phenotypic expression of clinical haemoglobinopathy in West Africa. New Istanbul Contribution to Clinical Science 1978 Dec; 12(3-4): 246-257.

13 Konotey-Ahulu FID. SICKLE CELL DISEASE: The Case for Family Planning. Astab Books Ltd., Accra Ghana 1973.

14 Owusu SK. Clinical manifestations of glucose 6 phosphate dehydrogenase (G6PD) deficiency in Ghana. Ghana Medical J 1978; 17: 235-239.

15 Owusu SK, Foli AK, Konotey-Ahulu FID, Janosi M. Frequency of Glucose 6 Phosphate Deficiency in typhoid fever in Ghana. Lancet 1972; 1: 320.

16 Adu D, Anim-Addo Y, Foli AK, Yeboah ED, Quartey JKM. Acute renal failure and typhoid fever. Ghana Medical Journal 1975; 14: 172-174.

17 Owusu SK, Addy JH, Foli AK, Janosi Marianne, Konotey-Ahulu FID, Larbi EB. Acute reversible renal failure associated with glucose 6 phosphate dehydrogenase deficiency. Lancet 1972; 1: 1255-1257.

18 Konotey-Ahulu FID. Glucose 6 phosphate dehydrogenase deficiency and sickle cell anaemia. New Eng J Med 1972; 287: 887-888.

19 Acquaye CTA, Gbedemah KA, Konotey-Ahulu FID. Glucose 6 phosphate dehydrogenase deficiency incidence in sickle cell disease in Accra. Ghana Med J 1977; 16: 4-7.

20 Konotey-Ahulu FID. G6PD Deficiency in Ghanaians: How to recognize it. http://blog.konotey-ahulu.com/blog/_archives/2008/1/16/3458557.htmlJan. 16 2008.

21 Owusu SK. Absence of glucose 6 phosphate dehydrogenase (G6PD) in red cells of an African. BMJ 1972; 4: 25-26

22 Owusu SK, Opare-Mante A. Electrophoretic characterization of glucose 6 phosphate dehydrogenase (G6PD) enzyme in Ghana. Ghana Medical Journal 1972; 11: 304

23 Ringelhann Bela. A simple laboratory procedure for the recognition of the A (African Type) G6PD Deficiency in acute haemolytic crisis. Clin. Chim. Acta 1972; 36: 272-274.

24 Beutler E. Genetic Disorders of Red Cell Metabolism. Medical Clinics of North America 1969; 53: 813-826.

25 Bowman James E, Murray Robert F. Genetic Variation and Disorders in Peoples of African Origin. The Johns Hopkins University Press Ltd, London 1990, pp 171-190.

26 Luzzatto Lucius. G6PD Deficiency frequency and sickle cell association on the African continent. INSERM 1975; 44: 229.

27 Konotey-Ahulu FID, Kuma Eunice. Skeletal crumbling in sickle cell anaemia complicated by Salmonella Typhi infection. British J Clin Practice1965; 575-578.

28 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. T-A’D Company Watford 1996 [First Published 1991 & 1992 The Macmillan Press Ltd., London and Basingstoke] – 643 pages. [This book has 133 Illustrated Case Histories not found elsewhere]

29 Konotey-Ahulu FID. Alpha-Thalassaemia nomenclature and abnormal haemoglobins. Lancet 1984; 1: 1024-1025.

30 Weatherall DJ, Clegg JB. The Thalassaemia Syndromes 1981. Third Edition, Blackwell Scientific. Oxford.

31 Konotey-Ahulu FID. Survey of sickle cell disease in England and Wales. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1495623/pdf/bmjcred00588-00…
BMJ 1982; 284: 111 (January 9)

32 Konotey-Ahulu FID. Sickle Cell Disease in Successive Ghanaian Generations for Three Centuries (Manya Krobo Tribe) Chapter 2 Reference 28 pp 6-20, and FID Konotey-Ahulu 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 [Invited Commentary on Professor David Resnik’s article: The Human Genome Diversity Project: Ethical Problems and Solutions]

Competing interests: My Parents Heterozygote for Abnormal Hbns (“AC” & “AS”) had 11 children: 3 Sickle Cell Disease “SC”, 2 Heterozygotes “AC”, 2 Heterozygotes “AS”, 4 Homozygotes “AA” [32].

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