Rare Pathogenic β0-Thalassemia Mutation, Codon 7 (G AG> T AG) (HBB: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece

Hemoglobin. 2022 Mar;46(2):140-142. doi: 10.1080/03630269.2022.2096462. Epub 2022 Aug 24.

Abstract

We report the hematological data of the codon 7 (GAG>TAG (HBB: c.22G>T) mutation for the first time in two Albanian individuals from the region of Elbasan, who underwent genetic testing due to prenatal counseling and diagnosis for β-thalassemia major (β-TM) anemia. The phenotype was compatible with a typical β0-thalassemia (β0-thal) carrier but the hematological findings of the mutation has not been previously reported. The mutation involves the conversion of codon 7 GAG (Glu) into a translation termination codon (TAG), involving the replacement of guanine by thymine so that no β chains are produced.

Keywords: Albanians; codon 7; epidemiology; thalassemia.

Publication types

  • Case Reports

MeSH terms

  • Codon, Terminator
  • DNA Mutational Analysis
  • Emigrants and Immigrants*
  • Genotype
  • Greece
  • Guanine
  • Humans
  • Mutation
  • Thalassemia* / genetics
  • Thymine
  • beta-Globins / genetics
  • beta-Thalassemia* / diagnosis
  • beta-Thalassemia* / genetics

Substances

  • Codon, Terminator
  • beta-Globins
  • Guanine
  • Thymine