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