Genotype of 168 child cases with high-risk thalassemia

Objective To analyze the genotypes of high-risk thalassemia(thalassemia) children.Methods Samples were collected from 168 children with high-risk thalassemia and the genotypes of α-thalassemia and β-thalassemia were detected.The α-thalassemia cases were detected for three alpha deletion genotypes(-SEA/-a 3.7/-a 4.2)and three non-deletion mutant α-thalassemia(HbCS HbQS HbWS).The alpha deletion genotype was detected with single-tube multiplex PCR technology,non-deletion mutant α-thalassemia and β-thalassemia(17 sites) in common Chinese people were detected with by using reverse dot blot hybridization.Results Totally 49 α-thalassemia cases were detected from 168 children at high risk of thalassemia,accounted for 29.17%;including 39 deletion α-thalassemia cases,accounting for 79.59% of the alpha-thalassemia cases,10 non-deletion mutant a-thalassemia cases,accounting for 20.41% of α-thalassemia.Twenty-seven deletion β-thalassemia cases were detected accounting for 16.07%;including double heterozygotes in 5 cases,accounting for 2.98%;detection composite αβ-groundpoor in 12 cases,accounting for 7.14%;the total detection rate was 55.36%.Conclusions The incidence of thalassemia in Qinzhou is high,and large-scale screening of thalassemia among population of child-bearing age is indicated for improvement of prenatal care and reduce the incidence of thalassemia ion Qinzhou.