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The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

journal contribution
submitted on 2024-12-09, 06:11 and posted on 2025-01-12, 04:53 authored by Aisha Moeen Khan, Asma Mohammed Al-Sulaiti, Salma Younes, Mohamed Yassin, Hatem Zayed

Objectives

To investigate the mutational spectrum in the HBB gene in Arab patients with β-thal.

Methods

Authors searched five databases (PubMed, Science Direct, Scopus, Web of Science, and Google Scholar) from the time of inception until March 2020.

Results

The authors search strategy yielded 3,229 citations, of which 48 eligible studies captured. 105 mutations were captured, of these, 99 were shared between Arabs and other ethnic groups, six mutations were unique to Arabs (c.92 + 2 T > G, c.-240 G > A, c.150delC, c.420dupT, deletion of 192 bp spanning exon 1, intron 1, and the first two bases of exon 2 of HBB gene, and deletion of 9.6 kb, including exon 1 and intron 2 of HBB gene). The most common HBB gene mutations among Arabs were c.93–21 G > A, c.118 C > T, c.92 + 1 G > A, c.92 + 6 T > C, c.92 + 5 G > C, c.315 + 1 G > A, and c.27dupG. Consanguinity is high among Arab patients with β-thal. Migration into Arab countries led to allelic heterogeneity among Arab patients with β-thal.

Conclusion

Our findings present a platform for further genetic epidemiological studies for Arab patients with β-thal.

Other Information

Published in: Expert Review of Hematology
License: http://creativecommons.org/licenses/by-nc-nd/4.0/
See article on publisher's website: https://dx.doi.org/10.1080/17474086.2021.1860003

Funding

Open Access funding provided by the Qatar National Library.

History

Language

  • English

Publisher

Taylor & Francis

Publication Year

  • 2020

License statement

This Item is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Institution affiliated with

  • Qatar University
  • Qatar University Health - QU
  • College of Health Sciences - QU HEALTH
  • Hamad Medical Corporation
  • Interim Translational Research Institute - HMC
  • Women's Wellness and Research Center - HMC
  • National Center for Cancer Care and Research - HMC

Geographic coverage

Middle East and North Africa (MENA) and Gulf Cooperation Council (GCC) countries