Nonsense Beta-Thalassemia Mutation At Codon 37 (Tgg > Tga), Detected For The First Time In Three Turkish Cases

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.