Screening and genetic analysis of thalassemia in Sichuan District / 生物医学工程学杂志

ABSTRACT

This paper was aimed to screen and analyze the genotypes of thalassemia of the residences in Sichuan Province. The phenotypes of thalassemia was screened by hemoglobin electrophoresis, and the genotypes of the phenotype positive cases was analyzed. There were 69 alpha-thal and 115 beta-thal phenotype positive cases in 3185 subjects. A total of 157 cases were diagnosed as thalassemia. These included 53 alpha-thal, 102 beta-thal and 2 alpha/beta-thal cases. The positive rates were 1.66%, 3.20%, 0.06%, respectively. It can be seen that Sichuan is one of the provinces with a high incidence of thalassemia. Hemoglobin electrophoresis is an important method for thalassemia screening, and GAP-PCR and PCR-RDB technology for thalassemia genotype analysis. A combination of both enables a wide range of screening and diagnosis of thalassemia.