Raniah S Alotibi1, Eman Alharbi1, Bushra Aljuhani1, Bdoor Alamri1, Mohieldin Elsayid1, Naif M Alhawiti1, Fazal Hussain2, Fahad Almohareb2, Cherry Colcol2, Shoeb Qureshi3
1Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
2King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.
3Department of Research Methodology, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Background: β-thalassemia is an autosomal disorder of the blood caused by mutations in HBB gene responsible for the production of β-globin. The HBB mutations reduce the synthesis of β-globin which results in severe anemia. A high frequency of β-thalassemia is reported in Saudi Arabia, and hence this study assessed the most frequent β-thalassemia mutations in Saudi Arabia. Materials and Methods: Data of preimplantation genetic diagnosis and gene sequencing for 59 β-thalassemia patients and carriers were collected from the electronic medical record system at KFSH and RC and were analyzed using SPSS version 19. Results: Twelve mutations were confirmed in the five regions investigated in this study. Cd39 was identified as the most frequent mutation with a frequency of 22.7%, with high prevalence in the central parts of Saudi Arabia. IVS-II-1 G > A was the second frequent mutation observed with a frequency of 21.2%, while IVS-I-1 (G-A) and IVS I-130G>C mutations were observed to be least frequent in the study. Of the 12 gene mutations, 85% were frequently observed in Saudi Arabia, while 15% were less frequent. The regional distribution of HBB gene mutations varied considerably. Conclusion: The population diversity in Saudi Arabia contributes to the variability in the prevalence rates of HBB gene mutations. Nevertheless, this study identifies Cd39 and IVS-II-1 G > A as the predominant mutations in HBB gene in Saudi Arabia.
Keywords: β-thalassemia, HBB gene mutations, thalassemia.