Page 77 - IJPS-8-2

International Journal of

Population Studies

RESEARCH ARTICLE
Molecular characterization of beta-thalassemia

reveals the presence of common mutations in
the population of Himalayan region: Garhwal

(Uttarakhand), India

Aprajita Santosh Mishra, Pramesh Chandra Lakhera, Priyanka Negi, and
Anjita Pandey*

Department of Biotechnology, HNB Garhwal University, Srinagar (Garhwal), Uttarakhand, India

Abstract

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.
*Corresponding author: For this study, 4,081 individuals were considered, out of which only the ones with
Anjita Pandey (anjitapandey@ elevated HbA levels (64) were subjected to molecular characterization. Mutational
gmail.com) 2
studies were carried out for the five most common mutations prevalent in the Indian
Citation: Mishra, A.S., subcontinent, that is, IVS 1-5 G-C, IVS 1-1 G-T, Codon 41/42 (-TCTT), Codon 8/9, and
Lakhera, P.C., Negi, P., et al.
(2022). Molecular characterization 619 bp deletion. The present study reports a frequency of 0.5% for β-thalassemia
of beta-thalassemia reveals the mutations among the subjects we have studied. The analysis of mutation spectrum
presence of common mutations in revealed highest prevalence for IVS-1-5 (G-C) (18.75%) followed by Codon 8/9 (12.5%)
the population of Himalayan region:
Garhwal (Uttarakhand), India. and IVS-1-1 (G-T) with 6.25%. Codon 41/42 (-TCTT) and 619 bp deletion were found
International Journal of Population to be absent in our study population.
Studies, 8(2):71-78.
https://doi.org/10.36922/ijps.v8i2.324
Keywords: Beta-thalassemia; Molecular characterization; Mutation, Beta-globin gene,
Received: August 22, 2022
India
Accepted: December 1, 2022
Published Online: December 23,
2022
1. Introduction
Copyright: © 2022 Author(s).
This is an Open Access article Thalassemia is inherited, meaning that at least one of the parents must be a carrier of the
distributed under the terms of the
Creative Commons Attribution disorder (Bajwa & Basit, 2022). It is caused by either a genetic mutation or a deletion of
License, permitting distribution, certain key gene fragments. Thalassemia patients have fewer than normal hemoglobin
and reproduction in any medium, molecules. Red blood cells can carry oxygen because of hemoglobin. Anemia and fatigue
provided the original work is
properly cited. are major symptoms of thalassemia, so patients of thalassemia in its severe variants
may necessitate frequent blood transfusions. However, unlike thalassemia, in anemic
Publisher’s Note: AccScience
Publishing remains neutral with condition, the body does not have enough normal and healthy red blood cells.
regard to jurisdictional claims in
published maps and institutional Thalassemia was originally thought to be the characteristic of tropics and subtropics
affiliations. but due to migration, it is now becoming a substantial global concern (De Sanctis

Volume 8 Issue 2 (2022) 71 https://doi.org/10.36922/ijps.v8i2.324