Detection of beta thalassemia mutations with molecular techniques in Diyarbakır region

DETECTION OF BETA THALASSEMIA MUTATIONS WITH MOLECULAR TECHNIQUES IN DİYARBAKIR REGION SUMMARY We have collected 36 blood samples from the patients of Dicle University Faculty of Medicine department of haematology and pediatrics in order to research for Beta Thalassemias mutations. Beta Thalassemia mutations in our region were not determined previously. In our study 36 blood samples from patients with Beta thalassemia major have been analysed with moleculer methods (Amplification Refractory Mutation System). Eight different mutations were determined. All of the mutations were spesific to Mediterranean country and of those: IVS-l-11 0 (G->A) p+ 27.8 %, IVS-l-1 (G^A) p° 2.8 %, Cd 39(C-VT) p° 2.8 %, IVS-l-6 (T-*C) p+ 11.1 %, IVS-ll-1 (G- A) p° 8.3 %, IVS-ll-745 (C^G) p+ 5.5 %, Cd 8 (-+A) p° 11.1 %, -30 (T^A) p+ 2.8 %. The mutation of -30 (T-A) B+ which is found spesific to East Asian countries was found 2.8 %. Ten of them were classified as unknown mutations and rate was 27.8 %. A study like this has never been done and we have no knowledge about it in our region. This reason guided us to determine the dispersion of beta thalassemia in Diyarbakır region. We hope that this study will help making the Beta-Thalassemias chart of Turkey and the World.