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

• Published in: Expert review of hematology Vol. 14; no. 1; pp. 109 - 122
• Main Authors: Khan, Aisha Moeen, Al-Sulaiti, Asma Mohammed, Younes, Salma, Yassin, Mohamed, Zayed, Hatem
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 02.01.2021
• Subjects: Arab countries; Beta Thalassemia (β-thal); genetic mutations; genotype-phenotype correlations; HBB gene; genotype-phenotype correlations; genetic mutations; Beta Thalassemia (β-thal); Arab countries; HBB gene
• ISSN: 1747-4086; 1747-4094
• DOI: 10.1080/17474086.2021.1860003

To investigate the mutational spectrum in the HBB gene in Arab patients with β-thal. Authors searched five databases (PubMed, Science Direct, Scopus, Web of Science, and Google Scholar) from the time of inception until March 2020. 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. Our findings present a platform for further genetic epidemiological studies for Arab patients with β-thal.