A study of genetic mutation on beta-Thalassemia patients

Beta-Thalassemia is the most common hereditary disorder in the world. Vietnam locates at “Thalassemia belt” with over ten million people carrying the beta-Thalassemia gene. Derived from the expectation to reduce the mutation resources in our community, developing the molecular diagnostic methods for prenatal diagnosis and genetic counseling has been becoming a critical issue. In Haiphong, this is the first genetic research to determine the prevalence of gene mutations and genotypes in beta-Thalassemia patients. By the M.ARMS-PCR method, we analyzed 91 samples. It showed that 100% of cases were detected at least one beta-Thalassemia mutation, 6 alleles were found out, in which cd26 (34.96%), cd41/42 (20.32%) and cd17 (19.51%) made up the highest proportions. Besides, genotype combining beta-Thalassemia mutation and cd26 (HbE) accounted for a significant proportion of all, with %. On the one hand, we thus have described the reality status of mutations in beta-Thalassemia patients in one of Vietnam’s major cities. On the other hand, our results obtained is an important scientific knowledge for orienting diagnosis strategy in Haiphong’s hopistals in the future.