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 va rious 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 o ther quantitative methods. Analysis of the beta-globin gene of 112 cas es used ARMS (amplification refractory mutation system)-PCR (polymeras e chain reaction) techniques showing that IVS-1 nt 5 (G-->C) is the mo st 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-t halassemia phenotype in the samples from West Bengal, India. (C) 1997 Elsevier Science Ireland Ltd.