Comparing of Microarray Techniques with Classical Techniques for Molecular Diagnosis of β-Thalassemia

Thalassemia is an hereditary hematological disorder inherited autosomal recessively. The distribution of thalassemia shows heterogenity not only in various countries but also different regions of the same country. In -thalassemia, mutations located in or around of beta gene cause a decrease in the production of beta globin chain or lack of synthesis. There are two types of -thalassemia, 0 and +, according to the production of beta globin chain. In 0 thalassemia, no beta chain is produced. In + thalassemia, a small amount of beta chain production is present. In Turkey the most common thalassemia mutation is IVS I-110. With this study, we aimed to compare microarray techniques with classical techniques and to establish a method for the use of microarray technologies in prenatal diagnosis of thalassemia. ARMS and DNA microarray methods are used for the detection of thalassemia mutations in carriers and patients. Our samples were obtained from total 52 individuals. All samples were separately studied with both ARMS and microarray methods and the same results were also obtained in both methods after the mutation detection. At the end of this study, it is observed that allelle numbers of IVS I-110, IVS I-1, IVS I-6, IVS II-1, Cd39 and IVS II-745 mutations were 23, 13, 9, 9, 8 and 6, respectively. Moreover, it is determined that 13 and 3 of cases were homozygote and double heterozygote, respectively. Cd6 and -87 mutations couldn?t be determined in any cases. In conclusion, more rapid results were obtained by using DNA microarray according to conventional methods and prenatal diagnosis is not only simplified by this method but also an opportunity is given for studying much more samples in a single experiment.