A Novel Frameshift Mutation at Codon 2 (-T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan

Hemoglobin. 2019 Jul-Sep;43(4-5):280-282. doi: 10.1080/03630269.2019.1657886. Epub 2019 Sep 3.

Abstract

We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (-T) (HBB: c.9delT) was relevant to β0-thal. Additionally, we here report two new mutations on the HBB gene, not observed previously, in the local population as well as a non causative promoter mutation -198 (A>G) (HBB: c.-248A>G).

Keywords: Frameshift mutation; HBB promoter; Hb Dhonburi; initiation codon.

MeSH terms

  • Azerbaijan
  • Codon
  • Female
  • Frameshift Mutation*
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Promoter Regions, Genetic / genetics
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • beta-Globins