Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases

Hemoglobin. 2012;36(3):283-8. doi: 10.3109/03630269.2012.662197. Epub 2012 Mar 2.

Abstract

Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Child, Preschool
  • Codon / genetics*
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Turkey
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Codon, Nonsense
  • beta-Globins