Frequency of G-Globin Promoter -158(C>T) Xmnl polymorphism and its correlation with Beta thalassaemia mutations in Bangladeshi population

Beta thalasaemia mutations

Authors

  • Waqar A Khan Department of Biochemistry and Molecular Biology, Dhaka Shishu Hospital, Sher-e-Bangla Nagar, Dhaka Bangladesh.
  • Bilquis Banu Department of Clinical Pathology, Dhaka Shishu Hospital, Sher-e-Bangla Nagar, Dhaka Bangladesh.
  • Md. Abdul Aziz Department of Biochemistry and Molecular Biology, Dhaka Shishu Hospital, Sher-e-Bangla Nagar, Dhaka Bangladesh.
  • Salma Sadiya Department of Biochemistry and Molecular Biology, Dhaka Shishu Hospital, Sher-e-Bangla Nagar, Dhaka Bangladesh.
  • Md. Belayet Hossain Department of Haematology and Oncology, Dhaka Shishu Hospital, Sher-e-Bangla Nagar, Dhaka, Bangladesh.
  • Md Selimuzzaman Department of Haematology and Oncology, Dhaka Shishu Hospital, Sher-e-Bangla Nagar, Dhaka, Bangladesh.

DOI:

https://doi.org/10.3329/bmrcb.v47i2.57783

Keywords:

Beta Thalassemia mutations Xmn1 Polymorphism, Restriction enzyme, Heterozygous, Homozygous

Abstract

Background: In Bangladesh, more than 14000 children on are born annually with in thalassaemia – a common congenital disease Hb E trait is 6.1%. Hb E beta thalassaemia is the most common type of thalassaemia, followed by Beta thalassaemia major.

Objectives: To determine the frequency of Xmn1 polymorphism and its association with Beta thalassaemia mutations.

Methods: A total of one hundred and four Bangladeshi thalassaemia patients were analysed. Amplification Refractory Mutation System (ARMS) was utilized for Beta thalassaemia mutations and digestion of the PCR product using Xmn1 restriction enzyme Pdml for Xmn1 polymorphism.

Results: Xmn1 polymorphism was detected in seventy patients of which 60(57.69%) were heterozygous for Xmn1 polymorphism and seventeen (16.35%) were homozygous. The most common genotype found was heterozygous Xmn1(-/+)seen in 57.70%. The age of presentation of thalassaemic patients was delayed in those who had Xm1 polymorphism.The mean age of presentation of Hb E beta thalassaemia was 13.35 years having homozygous Xm1 polymorphism,7.21 years in heterozygous and 6.25 years without Xmn 1 polymorphism. The most common mutation detected was Cd26 (G-A) +IVS 1-5(G-C) in fifty eight patients in which thirty nine (67.24%) were heterozygous for Xmn 1 polymorphism and 8 (13.79%) were homozygous (+/+).The second most common mutation observed was Cd26(G-A)+30(G-C) seen in fourteen patients where 57.14% were homozygous for Xmn 1 polymorphism and 35.71% were heterozygous. In thalassaemia major 9 (90%) were negative for Xmn1 polymorphism. Allele frequency of Xmn 1 polymorphism was 0.45.

Conclusion: The association of Xmn1 polymorphism with two common mutations seen in Hb E beta thalassemia patients may be utilized for hydroxyurea therapy to reduce the requirement of blood transfusion.

Bangladesh Med Res Counc Bull 2021; 47(2): 219-224

Downloads

Download data is not yet available.
Abstract
22
PDF
35

Downloads

Published

2022-05-17

How to Cite

A Khan, W., Banu, B., Aziz, M. A., Sadiya, S., Hossain, M. B., & Selimuzzaman, M. (2022). Frequency of G-Globin Promoter -158(C>T) Xmnl polymorphism and its correlation with Beta thalassaemia mutations in Bangladeshi population: Beta thalasaemia mutations. Bangladesh Medical Research Council Bulletin, 47(2), 219–224. https://doi.org/10.3329/bmrcb.v47i2.57783

Issue

Vol. 47 No. 2 (2021)

Section

Research Papers

License

Copyright (c) 2021 Waqar A Khan, Bilquis Banu, Md. Abdul Aziz, Salma Sadiya, Md. Belayet Hossain, Md Selimuzzaman

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms.

Authors retain copyright and grant the journal right of first publication.

Creative Commons Licence
Articles in the Bangladesh Medical Research Council Bulletin are licensed under a Creative Commons Attribution 4.0 International License (CC-BY) that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).