Highlights
Sickle cell disease (SCD) is a genetic disease caused by a mutation in the HBB gene (HBB:c.20A>T) located on chromosome 11 and affects the structure of hemoglobin, the protein that carries oxygen throughout the body. This abnormal hemoglobin polymerizes during the physiological stress and increased requirement of oxygen leading to change of shape of the red blood cell from round shape to sickle shape. Abnormal sickle shape erythrocyte alters the normal blood flow in small vessel leading to ischemia and reperfusion injury and acute painful crisis1 .
It is estimated that 3,00,000 infants are born with SCD annually2 , off which India contributes to approximately 44,000 birth of SCD3 . The prevalence of SCD is higher in countries of sub-Saharan Africa, Middle East, central America and South East Asia. Three countries (India, Democratic Republic of Congo and Nigeria) shoulder half of the global burden of SCD across the globe and therefore SCD is a public health concern. In India, high prevalence of SCD has been observed in the underprivileged and marginalized populations (Schedule Tribes and Schedule Castes)4.