The occurrence of beta-thalassemia mutation and its interaction with hemoglobin E in the eastern India.

The distribution of variant hemoglobin in India has been related to various ethnic groups among other factors. beta-Thalassemia is the most frequent monogenic disorder in the country. Analysis of hemoglobin of 435 cases from Eastern India was performed by electrophoresis and by other quantitative methods. Analysis of the beta-globin gene of 112 cases used ARMS (amplification refractory mutation system)-PCR (polymerase chain reaction) techniques showing that IVS-1 nt 5 (G-->C) is the most prevalent mutation in populations from Eastern India. IVS-1 nt 5 (G-->C) interacts with the codon 26 (G-->A) mutation to produce E beta-thalassemia phenotype in the samples from West Bengal, India.