Sickle Cell Disease in the Sudan: Clinical and Biochemical Aspects

Abstract

Sickle cell anaemia is a haemoglobinopathy due to a single point mutation in the B-chain of human haemoglobin. The amino acid valine replaces glutamic acid in the sixth position of the B-globulin chain (71). The homozygous inheritance of this abnormality produces haemoglobin SS and individuals with this genotype suffer from sickle cell anaemia. Subjects with the heterozygous form are designated AS and are essentially healthy unless exposed to extreme conditions (113).