Beta thalassemia mutations in Kozan

Beta thalassaemia trait is about 2% but at some region this ratio increase as to 10% in Turkey. IVSI-110 is the most common beta thalassaemia mutation in the country. In this study, our aimed was determine beta thalassemia mutations in Kozan. Five mL venous blood was taken from thalassemia trait and patients. Haematological datas were obtained by cell counter. HbA2 was determined by HPLC. Ten beta globin gene mutations -30 (T>A), Fsc 8 (-AA), Fsc 8/ 9 (+G), IVS 1-1 (G>A), IVS 1-5 (G>C ), IVS 1-6 (T>C), IVS 1-110 (G>A ), Cd 39 ( C>T), IVS 2-1 (G>A), IVS 2-745 (C>G) were screened by ARMS method. Five of the couples were detected as IVS1-110 heterozygous. Also one adults and two children were homozygous. Seven beta thalassemia mutations (Fsc8, Fsc8/9, IVS1-1, IVS1-6, IVS1-110, IVS2-1 and -30) were found in 32 samples. IVS 1-110 (G>A) was detected the most common beta thalassemia mutation in Kozan.