Molecular basesof â: thalassaemia in the thalassaemic population of Bhopal.

ABSTRACT

Beta- Thalassaemia is a group of heterogenexus recessive disorders common in many parts of the world and one of a major haemoglobinopathy of wide occurrence in the Indian sub-continent. In 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 – Thalassemia disorder is carried out by Amplification Refractory Mutation System (ARMS) technique. Blood samples of 50 cases of Thalassaimin Were obtained from patient attending Pediatrics OPD of Gandhi Medical College & Delta Pathology laboratory. Bhopal and were tested. Out of seven common â – thalassamia mutation, IVSI [ Intra Venous Sequences] nt 5] nuclentidex] (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.