NONSENSE beta-THALASSEMIA MUTATION AT CODON 37 (TGG > TGA), DETECTED FOR THE FIRST TIME IN THREE TURKISH CASES

Bozdogan S. T., Unsal C., Erkman H., GENÇ A., Yuregir O. O., Muslumanoglu M. H., ...More

HEMOGLOBIN, vol.36, no.3, pp.283-288, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 3
  • Publication Date: 2012
  • Doi Number: 10.3109/03630269.2012.662197
  • Journal Name: HEMOGLOBIN
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.283-288
  • Eskisehir Osmangazi University Affiliated: No

Abstract

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