Monalisha Saikia Borah, Prasanta Kumar Bhattacharya, MauchumiSaikia Pathak
Abstract: Thalassaemia is one of the most common inherited genetic disorders prevalent worldwide. In India, certain communities were identified with high risk of beta thalassaemia. There are more than 200 different types of beta thalassaemia mutations worldwide. The most common beta thalassaemia mutation, IVS 1-5 (GC) is being analyzed here to get information whether this common mutation is prevailing among the domicile of Northeast region of India or not. The study included characterization of IVS 1-5 (GC) mutations by ARMS-PCR. Among the total 460 cases referred for Haemoglobin typing, the occurrence of IVS 1-5 (GC) was observed among the 149 cases having beta thalassaemia. Among the 149 studied cases, 94 cases (63.09 %) were positive for IVS 1-5 (GC) mutation. The rest 55 were negative for IVS 1-5 (GC). This preliminary information regarding the mutational pattern is important for establishing prenatal diagnosis programmes. The results showed that, IVS 1-5 (GC) mutations is the most frequent mutation encountered among the beta thalassaemic samples of this Northeast region of India.
Keywords: Haemoglobinopathies, Thalassaemia, ARMS-PCR, IVS 1-5 GC mutation