The Spectrum of α-Thalassemia Mutations in Syrian Patients

Abstract

α-Thalassemia (α-thal) is a globally prevalent genetic disorder of hemoglobin (Hb) structure where the rate of α-globin chain synthesis is reduced or absent due to the presence of α-globin mutation(s). The aim of this study is to define the spectrum of α-globin gene mutations and evaluate their allele frequency in a group of α-thal carriers. A total of 55 individuals with possible α-thal patients were referred from the thalassemia centers in Syria. They have unexplained hypochromia and microcytosis. All patients were genetically tested for 21 common α-globin gene mutations using reverse hybridization kit. Seven different α-globin gene mutations and 13 different genotypes were detected in 55 patients. The two most frequently encountered mutations were -α^3.7 deletion (47.1%) and --^MED mutation (21.4%). The most commonly observed genotype was -α^3.7/αα (40%), followed by --^MED/αα genotype (21.8%). We determined the most common α thalassemia mutations in the Syrian patients. α-Thalassemia mutations with deletions were mostly observed in our study.

Keywords:

• α-Thalassemia -α^3.7
• α-globin genotype
• Syria

Acknowledgements

We thank Prof. I. Othman, the Director General of Atomic Energy Commission of SYRIA (AECS) and the head of Molecular Biology and Biotechnology Department for their support. This work was supported by the AECS.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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Funding

The authors reported there is no funding associated with the work featured in this article.