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., ...Daha Fazla

HEMOGLOBIN, cilt.36, sa.3, ss.283-288, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 3
  • Basım Tarihi: 2012
  • Doi Numarası: 10.3109/03630269.2012.662197
  • Dergi Adı: HEMOGLOBIN
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.283-288
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

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.