Abstract
Sickle cell disease (SCD) is an autosomal recessive genetic blood disorder due to single nucleotide mutation (GAG > GTG) in the beta globin gene. In SCD patients, the red blood cells (RBCs) become sickle-shaped in the deoxygenated state. The sickle haemoglobin (HbS) has an amino acid substitution at the sixth position of the β-globin chain (p.Glu6Val). Among the wide spectrum of illnesses observed in sickle cell anaemia patients, who are homozygous for the mutant gene, the most important is chronic anaemia with an extremely low haemoglobin concentration and frequent episodes of sickle cell crisis. SCD was detected for the first time in India in 1952 in an Irula boy of Nilgiris, Tamil Nadu and then in eastern India.
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