Vol. 1, Issue 8, Part E (2015)

Abstract
β-thalassemia is a group of heterogeneous recessive disorders common in many parts of World and one of major haemoglobinopathy of wide occurrence in the Indian sub-continent characterized by reduced or absent β-globin chain production. It is distributed to different degrees in different sub-populations. The treatment is quite expensive and counseling seems to be the only way for controlling it. In this report genetic analysis of few common mutations was carried out by ARMS-PCR technique.50 blood samples were collected from β-thalassemia carriers (minor) from Akola region. Out of five common β-thalassemia mutations, IVS I-nt 5(G-C), IVS I-nt 1(G-T), Co 8/9 (+G) and Co 41/42 (-CTT) were found in Sindhi population of Akola region in 66%, 16%, 10% & 2% respectively. Such type of observations might help in forming the basis for comprehensive diagnostic database that would not only be useful for genetic counseling but also for prenatal diagnosis.