Mutation Pattern in Beta Thalassaemia Trait Population: A Basis for Prenatal Diagnosis

Abstract

A total of 100 Bangladeshi beta thalassaemia carrier subjects were analysed by allele specific primers using Amplification Refractory Mutation System – Polymerase Chain Reaction. Among these, four common mutations were found in 90 cases (90.0%), five less common mutations in 9 cases (9.0%) and a rare mutation in 1 case (1.0%). Among the four common mutations, IVS1-5 (G-C) was the most common beta thalassaemia mutation and found in 63.0% cases, followed by Cd 30 (G-C) in 18.0%, Fr 8/9 (+G) in 5.0% and Fr 41/42 (-TTCT) in 4.0% respectively. Among the five less common mutations, Cd16 (-C) was found in 3.0%, -90 (C-T) and IVS1-130 (G-C) were seen in 2.0% each and remaining Cd15 (-T) and Cd15 (G-A) were detected in 1.0% each. The rare mutation was -29 (A-G), observed in one case (1.0%). With the application of this knowledge, it will help us for prenatal diagnosis and genetic counselling in Bangladesh for prevention of the disease.