Description of a Rare β-Globin Gene Mutation: –86 (C>G) (HBB: c.-136C>G) Observed in a Syrian Family

Abstract

We present the description of a β-thalassemia (β-thal) –86 (C>G) (HBB: c.-136C>G) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a homozygous state, while it was in the father and in the amniotic fluid sample in a heterozygous state. This mutation is located at –86 within the proximal CACCC box in the promoter of the β-globin gene and is possibly linked with a phenotype of β⁺-thal. Polymerase chain reaction-restriction fragment length polymorphism (PCR/RFLP) analysis indicated that the –86 mutation was linked with haplotype I [+ – – – – + +]. We propose that Lebanon may be the origin of this mutation. To the best of our knowledge, this is the first report describing this mutation in As-Suwayda Province. These findings provide novel information on the region-specificity of this mutation in southwestern Syria.

Keywords:

• β⁺-Thalassemia (β⁺-thal)
• –86 (C>G)
• rare mutations
• Syria

Acknowledgements

We thank Professor I. Othman, the Director General of the Atomic Energy Commission of Syria (AECS), and Dr. N. Mirali, the head of the Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission of Syria, Damascus, Syria, 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

This study was supported by the Atomic Energy Commission of Syria, Damascus, Syria.