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

Hemoglobin. 2019 Jul-Sep;43(4-5):283-285. doi: 10.1080/03630269.2019.1670206. Epub 2019 Nov 12.

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: IVS-II-848 (C>A) mutation; Syria; β-Thalassemia (β-thal).

Publication types

  • Case Reports

MeSH terms

  • Family
  • Female
  • Genotype
  • Heterozygote
  • Humans
  • Mutation*
  • Syria
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*

Substances

  • beta-Globins