Abstract

ASSESSMENT OF BETA-GLOBIN GENE MUTATIONS IN PATIENTS WITH BETA-THALASSEMIA CREATED IN THE CHAIN, THE POPULATION OF THE CITY OF TABRIZ IN IRAN

Shahin Asadi, Saiedeh Habibi and Ali Nazirzadeh

ABSTRACT

Thalassemia is the most common cause of anemia, such as alpha and beta globin genes that are involved in different chains and reduces the globin chain synthesis. On average, 5% of the world population, but only one variant globin gene, 1 to 7 percent, alpha and beta thalassemia minor show. Identification of common mutations in beta-thalassemia prevention programs and treatment can help carriers with specific genotypes. The project studied 117 people with thalassemia minor. RFLP technique for the detection of mutations and deletion mutations to detect displacement of ARMS-PCR technique was used and evaluated by SPSS data obtained were Bioinformatics. Among the known mutations, mutations cd36 / 37 (-T) with 59 and one with the mutation IVSII-1 (G> A) mutation with 34 and one with IVSI-110 (G> A) with 24 person maximum their frequency.

Keywords: beta thalassemia, mutations, the population of the city of Tabriz.