Survey of prevalence of beta-globin gene mutations of beta thalassemia in province of Ghazven

How to Cite:Masomeh TafziliIsa NormohammadiFarhad ZakerSima KheradmandKiaSurvey of prevalence of beta-globin gene mutations of beta thalassemia in province of Ghazven.koomesh.6(4):e152063.

Abstract

Introduction: Thalassaemia, an inherited blood disorder is the most common disease world wide. Beta-thalassaemia an autosomal recessive disease with mutations in beta-globin gene is more widespread. Identification of B-globin mutations would be important clinically. The purpose of this work was to analyze a small population of thalassaemia patients in Ghazven province for prevalence of beta-globin mutation. Materials & Methods: DNA based diagnosis was performed on 30 B-thalassaemic major patients using 13 primers with PCR –based amplification refectory mutation system (ARMS). Results: Data showed that IVSII-1 mutations were with 50% of the beta-thalassaemia alleles, IVSI-110 with 15%, FR8-9 with 5% and others were at lower frequencies. Conclusion: For implementation of thalassaemic prevention and control program, the screening of mutations in small population of patients in Ghazveen region showed prevalence is different than Mediterranean regions which race or geographical may hare an effect. Further studies are needed for spread, and the other unidentified mutations in this region.

Keywords

Beta-Thalassaemia, Mutation, PCR- ARMS

بتا تالاسمی، جهش، واکنش زنجیری پلی‌مراز

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