The Molecular Basis of Alpha-Thalassaemias in India: A Review

Thalassaemias and haemoglobinopathies are the most common genetic disease and impose a major burden on the population of India due to its high degree of morbidity and moderate to severe anaemia among different segments of the society. Amongst the population of 1000 million at the new millennium (2000) forty-five million carriers and fifteen thousand infants with major haemoglobinopathies have been reported in India. A highly heterogenous distribution of a-thalassaemia mutations have been reported in different parts of India. Migration, and gene flow ofthe mutant alleles of αthalassaemias by social, political and commercial reasons from different populations of theworld are possibly responsible for these heterogenous nature of these mutations. Our study on αthalassaemias with an special emphasis on the detection of –3.7 and –4.2 deletions showed remarkably high incidence of this disease among the tribal population in Eastern India. We have also reported high prevalence of this disease among nontribal Bengalees in Kolkata and adjacent areas. This article provides a glimpse on the epidemiology, occurrence anddifferent kinds of αthalassaemia mutations in different parts of India. © Kamla-Raj Enterprises 2007Anthropology Today: Trends, Scope and Applications Anthropologist Special Volume No. 3: 349-354 (2007)Veena Bhasin & M.K. Bhasin, Guest EditorsAuthors’ Address: Rinini Dastidar and Geeta Talukder,* Ramakrishna Seva Pratishthan, VivekanandaInstitute of Medical Sciences 99, Sarat Bose Road, Kolkata 700 026, West Bengal, India*E-mail: [email protected]