Magazine article New African

The Teenager with Sickle Cell Disease: Professor F.I.D Konotey-Ahulu, (the Dr Kwegyir Aggrey Distinguished Professor in Human Genetics, University of Cape Coast, Ghana), Continues His Series on Sickle Cell Disease. (Medical Themes)

Magazine article New African

The Teenager with Sickle Cell Disease: Professor F.I.D Konotey-Ahulu, (the Dr Kwegyir Aggrey Distinguished Professor in Human Genetics, University of Cape Coast, Ghana), Continues His Series on Sickle Cell Disease. (Medical Themes)

Article excerpt

Reading abstracts published in a Nigerian newspaper of my first article (NA, Jan 2001), a lady wrote to me: "I have three children. Both my husband and I are 'AS'. Our daughter is 'SS', her younger brother is 'AA', and our last born is 'AS'. Is there no cure for Sickle Cell Anaemia?"

I shall come to this question after dealing with an Ache/Ache teenager, but first let us see whether you got full marks answering the questions I set you in the test in New African March issue.

Q 1: Can an 'AS Trait' suffer from hand-foot syndrome?

Answer: No. Sickle Cell Traits do not have sickle cell crisis. The hand-foot syndrome is a manifestation of sickle cell crisis. Sickle Cell Traits have run at the Olympic Games in Mexico City, 8000 feet high, where the oxygen concentration is thinner than at ground level, and beaten the whole world. So stories about sickle cell traits dying suddenly when exercising on a mountain at 4,000 ft are based on ignorance. (See my website www.sicklecell.md where the subject has been treated in more detail).

The proportion of Haemoglobin 'S' in the Sickle Cell Trait (AS) is less than 39.7%, and can be as low as 20% -- not enough at all to change the shape of the cell in the body from round to sickle shape. We shall devote a whole article later to the Sickle Cell Trait. But if someone who was thought to be 'AS' had a real sickle cell crisis from fever, exercise, pneumonia, or flying, then the blood should be checked again and the 'S' and 'A' fractions by haemoglobin electrophoresis quantified.

If S% is greater than A%, then the smaller 'A' has come from a beta-Thalassaemia gene, and the patient has sickle-cell beta-Thalassaemia (Ache/Ache), not sickle cell trait. The 'small A' does not come from a normal Haemoglobin 'A' gene (Norm) but from a beta-Thalassaemia gene (Ache). Read that again. Have you got the point?

A true Sickle Cell Trait child (Haemoglobin 'A' greater than Haemoglobin 'S', ie Norm/Ache) cannot have the hand-foot syndrome, but a Sickle Cell beta-Thalassaemia child ('S' proportion greater than 'A', ie Ache/Ache) can suffer from the hand-foot syndrome.

I hope all this is not too complicated. 'AS' is NOT a disease; 'SF' is a disease; 'SThal' is a disease. If in doubt, measure the amount of 'S' present.

Q2: Does Sickle Cell Trait mean 'SC' phenoype?

Answer: No. 'S' is an Ache haemoglobin, and so is 'C', so the 'SC' phenotype is Ache/Ache not sickle Cell Trait which is Norm/Ache. Some doctors do not know the difference between Sickle Cell Trait (AS) and the Sickle Cell Disease (SC phenotype), so they call 'SC' Sickle Cell Trait. The reader of this article should be able to correct them. Don't be afraid of doctors or nurses. If they are confused about Sickle Cell Trait and Sickle Cell Disease, help them out.

Q3: Is there such a person as 'SC Trait'?

Answer: No. Don't use the 'S' to stand for 'Sickle' and 'C' for 'Cell'. In 'SC', the 'S' is "Sickle Cell Haemoglobin" and the 'C' is 'Haemoglobin C', so 'SC' stands for "Sickle Cell Haemoglobin C Disease". Certainly not 'Trait'.

Q4: Can malaria kill a Sickle Cell Disease child suddenly?

Answer: Yes, indeed. The rumour that sickle cell disease patients including people with sickle cell anaemia are resistant to malaria is dangerously false.

Q5: What circumstances can cause a stroke in a Sickle Cell Disease person?

Answer: Usually there is a combination of factors like:

(a) Lack of oxygen, or anything that reduces the amount of oxygen that reaches the lungs -- things like infection of the lungs (pneumonia), large tonsils obstructing breathing in the night, high fever which demands more oxygen in the tissues thereby removing oxygen from the blood, flying long distances, severe exercise, under-water swimming, and asthmatic attacks.

(b) Anything that slows down the blood flow -- like fluid loss such as vomiting and diarrhoea, hot weather with much sweating, not drinking all day by a sick child, or when fluids are withheld from someone due for an operation (the 'nil by mouth' notice should see to it that fluids are given through the vein or scalp in the case of a baby), otherwise the operation may be successful only to find the patient ending up with a stroke or severe sickle cell crisis from serious dehydration. …

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