Occurrence of the Codon 24 (A > T) Mutation in the Mauritanian Population

Hemoglobin. 2015;39(4):296-7. doi: 10.3109/03630269.2015.1043060. Epub 2015 Jun 5.

Abstract

Using direct DNA sequencing, we identified the codon 24 (A > T) (HBB: c.72T > A, p.Gly24Gly), mutation in two out of 15 Mauritanian β-thalassemia (β-thal) carriers. Both were of Black origin and had hematological indices compatible with mild β-thal minor. Could this variant be more common than expected in the Black Mauritanian population?

Keywords: Codon 24; Mauritania; Thalassemia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Codon*
  • Erythrocyte Indices
  • Female
  • Humans
  • Male
  • Mauritania
  • Mutation*
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • beta-Globins