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Molecular Bases of –Thalassaemia in the Thalassaemic Population of Bhopal

BetaThalassaemia is a group of heterogeneous recessive disorders common in many parts of the world and one of 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 disorder is carried out by Amplification Refractory Mutation System (ARMS) technique. Blood samples of 50 cases of thalassaimia were obtained from patient attending Pediatrics OPD of Gandhi Medical College & Delta Pathology laboratory, Bhopal and were tested. Out of seven common thalassaemia mutation, IVS1 [Intra Venous Sequences] nt 5 [nucleotides] (G C)], IVS1 nt 1 (G T), Deletion 619 bp (basic pair) and Cap+1(A C) were found in population of Bhopal in 39.52%, 16.27%, 18.59%, 6.97% respectively. Early detection of thalassaemia is, therefore, important not only from treatment point of view, but also for the prevention by genetic counseling.