Beta globine gene mutations in blood transfusion-dependent beta -thalassemia major patients in Kurdistan Province hospitals

Beta-thalassemia is a common autosomal recessive disorder of hemoglobin synthesis. About 200 mutations of beta globin genes have been detected. This study was performed to determine beta globin gene mutations in blood transfusion dependent pa­tients in Kurdistan Province hospitals from June 2012 to April 2014. This descriptive study included sixthy eight blood transfusion dependent pa­tients with beta- thalassemia major who had referred to Kurdistan Province hospital.Patients and their parents completed our questionnaires. Based on CBC and hemoglobin electro­phoresis results diagnosis of beta thalassemia was made. 5 ml blood was obtained from every participant and DNA was extracted by using standard salting out method. Then we investigated beta globin gene mutations by ARMS-PCR method and DNA sequencing. The most prevalent mutations were IVS-II-1 in 30 allels (22.5%), Fr8-9(+G) in 22 allels (15.94%), IVS-I-1 in 13 allels (9.42%) and C36/37 in 11 allels (7.97%). Among 138 allels, types of mutations in 42 allels of assessed 138 allels remained unknown. The results of this study were compatible with those of another study performed in Sanandaj in 2003, but in our study, mutation of C36/37 was more prevalent.