Spectrum of β-Thalassemia Mutations in high risk Sindhi community of Akola region

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 PCR technique.50 blood samples were collected from β-thalassemia carriers (minor) from Akola region. Out of five common βthalassemia 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.