Detection of beta-thalassaemia mutations in eastern Indian population by polymerase chain reaction.

ABSTRACT

We report here the application of a non-radioactive amplification refractory mutation system (ARMS) for the direct detection of beta-thalassaemia using polymerase chain reaction. Seven beta-thalassaemia mutations accounting for 89 per cent (71 of 80) of the alleles in eastern Indian population have been identified and majority (67.5%) were due to IVS-1 nt 5 (G-C) mutation. Interestingly, 9 cases did not reveal any of the 17 common mutations reported so far from Indian population.