ISSN: 2147-2092
β-globin Gene Mutations Among β-thalassemia and β-variant patients in a teaching Hospital in Universiti Sains Malaysia, Kubang Kerian, Kelantan
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Original Investigation
VOLUME: 33 ISSUE: 3
P: 215-219
July 2022

β-globin Gene Mutations Among β-thalassemia and β-variant patients in a teaching Hospital in Universiti Sains Malaysia, Kubang Kerian, Kelantan

GMJ 2022;33(3):215-219
DOI: 10.12996/gmj.2022.51
Syahzuwan Hassan 1
Zefarina Zulkafli 2,3
Rozieyati Mohamed Saleh 4
Mohd Nazri Hassan 2,3
Rahimah Ahmad 1
Wan Zaidah Abdullah 2,3
1. Hematology Unit, Cancer Research Centre, Institute for Medical Research (IMR), National Institutes of Health (NIH), Block C, No.1, Jalan Setia Murni, U13/52 Seksyen U13, Setia Alam, 40170, Shah Alam, Selangor
2. Department of Hematology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia
3. Hospital Universiti Sains Malaysia, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia
4. School of Health Sciences, Health Campus, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia
No information available.
No information available
Received Date: 19.07.2020
Accepted Date: 26.01.2021
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ABSTRACT

Background:

Thalassemia is one of the most common single gene disorders worldwide with hundreds of mutations involving beta (β)-globin gene alone. Nevertheless, each ethnic population has its own unique type of mutations. The aim of this study is to characterize types of β-globin gene mutations among β-thalassemia patients in a teaching hospital; Hospital Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.

Methods:

Hematological profile for each patient was studied, and this was followed by screening and characterizations of β-globin mutations using multiplex amplification-refractory mutation system (ARMS)-PCR. In addition, direct DNA sequencing was also performed for the selected number of samples. Multiplex ARMS-PCR was carried out on 102 patient samples taken from three different ethnic groups: Malays, Chinese and Thais.

Results:

This study finding indicated that majority of the patients were found to be heterozygous for Hb E (47.5%), heterozygous for β-thalassemia (31.3%) and homozygous for Hb E (7.5%). Heterozygous Hb Malay and compound heterozygous β-thalassemia/Hb E were observed at the equivalent frequency of 5.0%. Other genotypes include compound heterozygous β-thalassemia/ Hb Malay and compound heterozygous Hb E/ Hb Malay. However, 22 cases remain uncharacterized. Overall, 12 types of mutations were successfully identified which were depicted as 16 different genotypes. Cd 26 (G-A) mutation was found to be the most observed anomaly in this study.

Conclusion:

In conclusion, together with complete red cell indices as well as information on ethnic background, the multiplex ARMS-PCR can be an effective tool in dissecting specific regional mutations of the β-globin gene particularly in multi-ethnic populations of Malaysia.