Epidemiology, Population Health Genetics and Phenotypic Diversity of Sickle Cell Disease in India

Abstract

The sickle cell disease is characterized by crescent-moon-shaped red blood cells, resulting in hand and foot syndrome, chronic anemia, jaundice, serious frequent infections, painful episodes, vaso-occlusive crisis, enlarged spleen, retardation of development and growth, and damage to vital body organs, barring acute chest syndrome, leg ulcer, lung blockage and priapism complications in India. The disease is inherited as an autosomal intermediate dominant fashion. The sickle cell patients in India do not show severe clinical manifestations unlike the African patients due to interaction of α-thalassemia with sickle cell disease, high fetal hemoglobin level, and maintenance of life at low hemoglobin level. Kulozik and coworkers have described independent Asian origin of sickle cell haplotype based on the presence in India and East Saudi Arabia, but recent findings from India question this independent and unicentric origin of tribal population in India. In this paper, epidemiology, population genetics and phenotypic diversity of sickle cell disease have been discussed in the light of recent findings in India.