Sickle cell disease in India: A perspective.

Abstract

Sickle cell disease is an inherited blood condition which is most common among people of African, Arabian and Indian origin. In disease of African origin, research has led to models of care which prevent serious complications, improve the quality of life, and increase survival1. In India, the disease is largely undocumented. Thus, there is an urgent need to document the features of Indian disease so that locally appropriate models of care may be evolved. The sickle cell mutation affects the beta chain of adult haemoglobin which changes the behaviour of sickle cell haemoglobin. Possession of a single HbS gene results in the generally harmless sickle cell trait (AS genotype) but inheritance of the HbS gene from both parents results in homozygous sickle cell (SS) disease which is often a severe condition destroying red blood cells rapidly and blocking flow in blood vessels with painful and often serious complications2. The HbS mutation has occurred on at least three occasions in Africa, named after the areas where these were first described3, Benin, Senegal and Bantu (Central African Republic) and referred to as the beta globin haplotypes. A separate and fourth occurrence of the mutation was seen around the Arabian Gulf and India and designated the Arab-Indian or Asian haplotype4.