The determinaton of hemoglobinopathies by microarray method

The inherid disorders of hemoglobin, the hemoglobinopathies, are the commenest single gene conditions in humans and genetic disorders of structre and synthesis of one or more of the globin polypeptid chains. The hemoglobinopathies fall into two grups: abnormal hemoglobin, and thalassemias. 42 abnormal hemoglobins have been identified in the Turkısh population. The most frequently obseved abnormal hemoglobins are HbS, HbD, and HbE. Thalassemias are inherited hemoglobinopathies resulting from a decrased rate or production of one or more of the globin chains of hemoglobin. In a Thalassemias the synthesis of a chains is diminished, In b Thalassemias the synthesis of b chains is diminished. a Thalassemias and b Thalassemias are common hemoglobinopathies in Turkey. Survey for a and b Thalassemias showed prevalance rates of % 3,3 ,% 3,7. The most common ß thalassemia mutation is IVS I-110 in Turkey. In this study, general form HBS and rare form Hb D-Los Angelas, Hb E Saskatoon, Hb O Arab, Hb D İran and Hb G-Coushatta Hb types have been worked on rather samples in Çukurova Region via microarray system. Besides, classification of mutation type of 19 ß thalassemia patients have been studied, all of findings were shown that entire studies had double heterozygote characteristics and 15 studies of whole patients samples had IVSI-110 type mutation. Regional chip designs of mutation of Abnormal Hemoglobin and ß-Thalassemia have been done and these chip designs have been proved that characteristics for Abnormal Hemoglobin and ß-Thalassemia.