Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity

Abstract

β Thalassaemia is a major public health problem in India. A comprehensive database of the spectrum of mutations causing β thalassaemia in the Indian population is necessary. This study in which a large number of patients with β thalassaemia including those from certain regions that were not explored earlier shows a great heterogeneity of mutations. Several novel and rare alleles that have not been reported earlier in the Indian population have been identified, and mutations differ in frequency in different regions of the country. This information on the spectrum of mutations has implications for the control of β thalassaemia in a population with complex ethnic background and also on the genotype-phenotype correlation of the disease.