Major beta-globin gene mutations in eastern India and their associated haplotypes

324 alleles of the beta-globin gene from unrelated thalassaemia patients na tive to the eastern region of India (mainly from the state of West Bengal) were analysed for beta-globin gene mutations by the amplification refractor y mutation system (ARMS). The major mutations that were detected are IVS-1 pos 5 (G-C), codon 26 (G-A) and codon 30 (G-C) with frequencies of 0.45, 0. 33 and 0.05, respectively, Haplotype analysis revealed a very strong linkag e disequilibrium of IVS-1 pos 5 (G-C) with one particular haplotype. HbE wa s found to be associated with two major haplotypes, Codon 30 (G-C) was asso ciated with a haplotype that is the same as that found in the African popul ation. Haplotype associated with codon 8/9 (+G) was the same as that found in northwest India. These findings have implications for the use of molecul ar diagnosis for genetic counselling and prenatal diagnosis of beta-thalass aemia in this region.