Description of a rare ß-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

ß-Thalassemia (ß-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the ß-globin gene that result in the reduced or non production of ß-globin chains. We report a rare ß-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.