Molecular spectrum of Beta Thalassaemia mutations among the population of Odisha and their interaction with RBC Biology

Abstract

Beta thalassaemia is a genetic disorder which is expressed by hypo-production of and#946; globin chain. These hereditary diseases have been reported in high frequency from the Mediterranean region, Africa, South-East Asia and the Indian pockets. The patient s affected major type and trait of and#946; thalassaemia have a fatal symptom of anaemia to minimise by regular transfusions. It is notified that Beta thalassaemia is the most severe disorder in the Indian subcontinent. The mutation that leads to and#946; thalassaemias are point mutations, some deletions or insertion. About 200 molecular mutation causing and#946; thalassaemia has been reported worldwide but each population has a small number of common mutations. Five to six common mutations and about 50 rare mutations have so far been reported in Indians. A detail mutation based mapping of the Odisha population will be achieved by conducting the study. Knowledge about the occurrence of different beta thalassaemia mutations of Odisha population will also help to initiate the intervention and control programme for these health problems.In our study we evaluate the occurance of mutation detected in Odisha and their mutation how affects their red cell morphology. Therefore, the intention and motivation for this dissertation was to explore the role of these parameters in thalassaemia patients in the State of Odisha, India. The thesis embodying this research work has been grouped into a total of seven different chapters. It includes three chapters on experimental work as listed below. newline1. This study was conducted at the Department of Bioscience and Biotechnology, Fakir Mohan University, New campus, Balasore, Odisha,India. A total of 624 no. of patients screened in four zones of Odisha such as Southern, Northern, Eastern and Western which includes Ganjam, Koraput, Balasore, Mayurbhanj, Khurdha, Nayagarh, Sambalpur and Sundargarh districts respectively. About 2-3ml of intra-venous blood was collected from the suspected patients for various haematological investigations who came to the outdoor of