First identification of a point mutation at position -83 (G>A) of the beta-globin gene promoter

Hemoglobin. 2009;33(3):274-8. doi: 10.1080/03630260903081323.

Abstract

We report the first identification of a point mutation located within the promoter region of the beta-globin gene at position -83 (G>A) and associated with the common heterozygous deletional alpha-thalassemia (alpha-thal) (-alpha(3.7)/alphaalpha). The patient was an adult male from Gabon belonging to the Obamba sub ethnic group, who was referred to our clinics for a mild microcytic anemia with a Hb A(2) level at the upper limit of the normal value (3.5%). This observation is a new example of alpha- and beta-thal co-inheritance with a normal Hb A(2) level, and illustrates a potential source of pitfall in screening for alpha- and beta-thal carriers.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anemia / blood
  • Anemia / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic / genetics*
  • beta-Globins / genetics*

Substances

  • beta-Globins