Typification of beta thalassemia mutation of Elazig region

Thalassemia is a group of hereditary disease characterized with lessening one or more chain of globins and causes to anemia in the early phase of life. ß ?Thalassemias are congenital anemia that decreased or causing spoilt structure of expression of genes. With approximate carrier of 250 thousand in the world, ß-Thalassemias are the main cause of morbitites and mortalities. In this study, hemogram of blood samples, which were taken from 1500 people chosen randomly, were examined. The dose of MCV and Hb was found low out of the 76 of the cases. The levels of HPLC, HbA2 and HbF were examined in the cases. The 9 cases whose HbA2 levels were above %3,5 were subjected to determining of mutations. The methods of ß-globins strip assay and PCR were applied in the typification of thalassemia mutations. It was determined that the most frequend seen mutation is IVSI?110 with a percentage of %55,5 in the region of Elazığ. It was fixed that IVS2?1 (%11.1), CD39 (%11.1), FSC?5 (%11,1) and -30T ( %11,1) followed it in a decreasing proportions. The type of ß-Thalassemia mutation was found in Elazığ region with a density of %0,6. This proportions showed that the region was not at risk concerning thalassemia. Key words: ß-Thalassemia, ß-globin assay, prenatal diagnose