Aisha Moeen Khan1, Asma Mohammed Al-Sulaiti1, Salma Younes2, Mohamed Yassin3, Hatem Zayed1. 1. Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University , Doha, Qatar. 2. Translational Research Institute, Women's Wellness and Research Center, Hamad Medical Corporation , Qatar. 3. Department of Hematology and BMT, National Center for Cancer Care and Research, Hamad Medical Corporation , Doha, Qatar.
Abstract
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.
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.
Authors: Rita W Ahmad; Lina A Okar; Abdelhaleem Elhiday; Hussam Almasri; Fateen Ata; Elsayed Ahmed Mounir; Ali Barah; Mohamed Abdelrazek; Amna Gamil; Mouhammad Z Sharaf Eldean; Mohamed A Yassin Journal: Clin Case Rep Date: 2021-05-24
Authors: Eihab A Subahi; Fateen Ata; Hassan Choudry; Phool Iqbal; Mousa A AlHiyari; Ashraf T Soliman; Vincenzo De Sanctis; Mohamed A Yassin Journal: Ann Med Date: 2022-12 Impact factor: 4.709