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

Abstract

To investigate the mutational spectrum in gene in Arab patients with Beta-Thalassemia (β-thal). Authors searched five databases (PubMed, Science Direct, Scopus, Web of Science, and Google Scholar) from the time of inception until March 2020. Authors search strategy yielded 3,229 citations, of which 48 were eligible for systematic analysis. Ninety-three mutations were found; 87 were shared between Arabs and other ethnic groups, six mutations were unique to Arabs (c.92+2T>G, c.-240G>A, c.150delC, c.420dupT, deletion of 192 bp spanning exon 1, intron 1, and the first two bases of exon 2 of gene, and deletion of 9.6 kb, including exon 1 and intron 2 of gene). The most common gene mutations among Arabs were c.93-21G>A, c.118C>T, c.92+1G>A, c.92+6T>C, c.92+5G>C, c.315+1G>A, and c.27dupG. Consanguinity is high among Arab patients with β-thal, and migration into Arab countries led to allelic heterogeneity among Arab patients with β-thal. The findings of this study present a platform for further genetic epidemiological studies and will improve the genetic counseling for Arab patients with β-thal.