Nonsense ß-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. ß-Thalassemia major can be caused by homozygosity or compound heterozygosity for ß-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense ß-thalassemia (ß-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.