Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report

Abstract

β-Thalassemia (β-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the β-globin gene that result in the reduced or non production of β-globin chains. We report a rare β-globin mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A), which was found in a female Syrian patient. This mutation was associated with the IVS-I-1 (G>A) (HBB: c.92+1G>A) mutation, and the genotype is a compound heterozygote for IVS-I-1(G>A)/IVS-II-848(C>A). This combination was found for the first time in Syria.

Keywords:

• β-Thalassemia (β-thal)
• IVS-II-848 (C>A) mutation
• Syria

Acknowledgments

We thank Professor M. Kabakebi, president of Damascus University, Professor I. Othman, Director General of the Atomic Energy Commission of Syria (AECS) and Professor A.H. Natoof, dean of the Faculty of Pharmacy at Damascus University, for their support.

Disclosure statement

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

Additional information

Funding

We would like to thank the Faculty of Pharmacy, Damascus University, Damascus, Syria for their financial support.