موتاسيونهاي شايع بتاتالاسمي در شهر سنندج

Common Beta-Thalassemia Mutations in The City of Sanandaj

Introduction: Thalassemia with more than two million carriers is the most common hereditary disorder in Iran. Since Iran is a multi ethnic country, it is necessary to determine the frequency and distribution of beta thalassemia mutations in the different parts of the country. Materials & Methods: 35 sample from Beta-thalassemia patients obtained. DNA extraction was performed using protienase K method and genetic formulation was determined by reverse dot blot/PCR. Results: Ten mutations were detected among 66 chromosomes that were studied. 14 chromosomes which had uncommon mutation was named unknown. Among remaining 52 chromosomes IVSII was the predominant mutation (31.8%), followed by codon 8/9 (31.8%), IVSI-I (%12.1), codon 8 (6%), codon 39(%45). IVSI-5(%1.5), IVSI-6(%1.5), IVSI-110(%1.5) and codon 36/37 (%1.5) were the other mutations. Conclusion: IVSII-I was the most common mutation in this study. The result of this study is compatible with the results obtained in other areas in the west of Iran. Data obtained in this study can be used as a base for prenatal diagnosis of Beta-thalassemia in Kurdistan Province.