AccScience Publishing / IJPS / Volume 8 / Issue 2 / DOI: 10.36922/ijps.v8i2.324
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Molecular characterization of beta-thalassemia reveals the presence of common mutations in the population of Himalayan region: Garhwal (Uttarakhand), India

Aprajita Santosh Mishra1 Pramesh Chandra Lakhera1 Priyanka Negi1 Anjita Pandey1*
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1 Department of Biotechnology, HNB Garhwal University, Srinagar (Garhwal), Uttarakhand, India
IJPS 2022, 8(2), 71–78;
Submitted: 22 August 2022 | Accepted: 1 December 2022 | Published: 23 December 2022
© 2022 by the Author(s). Licensee AccScience Publishing, Singapore. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution -Noncommercial 4.0 International License (CC BY-NC 4.0) ( )

Thalassemia is a dreadful heritable hemolytic disease, characterized by a genetic mutation in the hemoglobin subunit beta (HBB) gene. Mutation in HBB gene completely halts the production of the beta-globin protein, which leads to the defective production of functional hemoglobin. The prevalence of this disease is reported only in some specific geographical regions of India. Hence, the aim of this study was to screen the population of Garhwal for beta-thalassemia (β-thalassemia) and thus find out the prevalence in the inhabitants through molecular characterization. For this study, 4,081 individuals were considered, out of which only the ones with elevated HbA2 levels (64) were subjected to molecular characterization. Mutational studies were carried out for the five most common mutations prevalent in the Indian subcontinent, that is, IVS 1-5 G-C, IVS 1-1 G-T, Codon 41/42 (-TCTT), Codon 8/9, and 619 bp deletion. The present study reports a frequency of 0.5% for β-thalassemia mutations among the subjects we have studied. The analysis of mutation spectrum revealed highest prevalence for IVS-1-5 (G-C) (18.75%) followed by Codon 8/9 (12.5%) and IVS-1-1 (G-T) with 6.25%. Codon 41/42 (-TCTT) and 619 bp deletion were found to be absent in our study population.

Molecular characterization
Beta-globin gene

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Conflict of interest
The authors have no conflicts of interest to declare.
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