The determination of hemoglobinopathies and thalassemia mutation types in konya region

Abnormal hemoglobin is obtained by the change of the amino acids on the globin chains. The most popular abnormal hemoglobins in Turkey as well as in the world are Hb S, Hb D, Hb E, and Hb C. Beta (ß) thalassemias are due to mutations in the ß globin gene on chromosome 11 and to date 200 thalassemia causing globins have been discovered around the world but only 30 different kinds have been identified so far in Turkey. IVS-I-110 is the most widely seen thalassemia mutation in Turkey. The reported cases of frequency of people carrying beta thalassemia is 2.1% in Turkish population. In this study, the main objectives were; 1) to do reporter design of the microarray machine that a method to fast and safety identify process various mutations caused by inherited blood disease; 2) to determine regions where the risk of disease may be high; 3) to aid prenatal diagnosis. In the Konya region all the collected blood samples have been identified with use conventional methods and new designed 29 microarray reporters for abnormal hemoglobin and thalassemia types. As a result, out of total 164 samples; ß thalassemia mutation as a carrier has been found in 84, ?3,7 was discovered in one of them and finally Hb S was found in one case. The cases of which mutation scanning have been completed, three were IVS I-110/IVS I-110 homozygote mutant, another three were IVS II-745/IVS I-110 double heterozygote mutant and lastly one of them was D/IVS I-110 double heterozygote. The cases which have been identified as ß thalassemia carrier; 74% IVS I-110, 9% Cd 8, 5% Cd 39, 4% Cd 5, 4% IVS I-1, 2% IVS II-745, 1% Cd 44, and -87.