Beta Thalassaemia Mutation In Population Of Bhopal, Central India

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Thalassaemia is a major haemoglobinopathy of wide occurrence in the Indian sub-continent. It is distributed to different degrees in different sub-populations. The treatment of this disorder is quite expensive and counseling seems to be the only way for controlling it. Genetic analysis for Beta-thalassaemia blood disorder is detected by ARMS(Amplification Refractory Mutation System) tecnique. A total number of 43 cases obtain from OPD of Gandhi Medical College & Delta Pathology Bhopal were tested for this disorder. Out of seven common Beta thal mutation (D.J. Weatherall & J.B. Clegg), IVS1 nt 5 (G®C), IVS1nt 1(G®T), 619 bp deletion, Cap+1(A®C), -88 C®T,Fr 8-9(+G), Fr 41-42(-4bp) 39.52%, 16.27%, 18.59%, 6.97%, 0%, 0%, 0% respectively found in population of Bhopal. Early detection of thalassaemia is therefore important not only from treatment point of view, but also for the prevention by genetic counseling.

Beta-thalassaemia; Central India; Mutation; PCR; Genetic Counseling; Prenatal Diagosis