MOI UNIVERSITY Eldoret, Kenya  Founded in 1984

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	MOI UNIVERSITY 4th INAUGURAL LECTURE BY PROF. J. R. ALUOCH
Date :	29th May 2008
Venue :	School Of Medicine (Old Library)
Topic :	CLINICAL AND ETHNOLOGICAL SIGNIFICANCE OF THE SICKLE CELL GENE IN THE GREAT LAKES REGION OF EAST AND CENTRAL AFRICA: SPECIAL REFERENCE TO KENYA
Speaker :	Prof. Joash Ronald Aluoch, M.D., Ph.D. School of Medicine, Department of Medicine

SYNOPSIS

Sickle cell disease (SCD) is a human clinical syndrome resulting from inheritance either in homozygous state or compound heterozygous state of a red blood cell (RBC) abnormality affecting the globin part of haemoglobin (Hb). The RBC abnormality results from a point mutation whereby in the amino acid sequence of the beta (?) globin chain, valin replaces glutamic acid at sequence 6 of the chain. When this change occurs, the RBC membrane alters under stressful circumstances and ceases to function normally. When such RBC's are viewed microscopically they are seen to be abnormal in shape. This abnormality in shape varies and could resemble a cigar, a boomerang or a sickle. The latter is the most consistent and typical shape from which the name sickle RBC or just sickle (S) cell is derived. The resultant Hb is denoted HbS. The gene thus inherited is called the HbS gene as opposed to the normal adult (A) Hb denoted HbA or Hb?A . So also is the HbS Hb?S. The homozygous or compound heterozygous states are therefore HbAA (?A?A) for normal homozygote, HbAS (?A?S) for the heterozygous carrier, HbSS (?S?S) for the sick homozygote and HbSX (?S?X) for the sick compound heterozygote where X or ?X denotes co-inheritance of another ?-globin abnormality such as HbC (?C), HbDPunjab (?D), HbOArab (?OArab), HbE (?E) or Hb-beta thalassaemia (?thal). With the exception of ?thal , all the others are a result of a point mutation like in ?S ?thal is a result of either complete or partial deletion or suppression of the ß-globin gene, resulting in ßOthal or ?+thal. In the latter, there is limited production of HbA up to 30%. Professional definition of SCD is therefore "Sickle hæmoglobin related clinical syndromes in which untransfused normal HbA when present, is less than 30%".

For More Information, Contact:
Prof. J. R. Aluoch (PhD)
School of Medicine
Moi University

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