Spectrum of Genetic Mutation in Beta Globin Gene in Various Type of Thalassaemia in Bangladesh
Abstract
Background: Hb-E/Beta thalassaemia is a congenital haemoglobin disorder which is a compound heterozygous state consists of qualitative disorder like Hb E variant & quantitative Hb disorder caused by genetic mutation of Beta chain. Objective: The aim of the study was to identify the beta gene mutation in Hb E/Beta thalassaemia. Method: A total of 32 diagnosed Hb E/Beta thalassaemia patients were included in this cross-sectional study from May 2019 to July 2020. Genetic analysis was done by sanger sequencing. Results: In this observational study, we found 13 different types of Beta gene mutations. Heterozygous for IVS 1-5(G>C) mutation was most frequent (53.1%). Conclusion: Genetic mutation is the confirmatory diagnosis for thalassaemia as well as one of the main factors for clinical expression. Mutation pattern also varies according to the geographical distribution. So, this study shows the frequently found mutation in Bangladesh and should carry out routinely to point out phenotypic expression.
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Copyright (c) 2021 Nishat Mahzabin , Md. Akhlak-Ul- Islam, Kazi Mohammad Kamrul Islam, Khaza Amirul Islam, Md. Arif-Ur- Rahman , Nusrat Jahan, Amin Lutful Kabir
This work is licensed under a Creative Commons Attribution 4.0 International License.
This is an open access article published under the Creative Commons Attribution 4.0 International License, which permits its free use, distribution, and reproduction in any medium or format, even used for commercial purposes, provided the original work is properly cited.