Analysis of gene detection and genotype of 980 cases with α-thalassemia in Qinzhou city of Guangxi

Objective To analyze genes of 980 city dwellers with α thalassemia in Qinzhou city of Guangxi to know the type of the gene mutation,so as to provide guidance to prevent local birth of children with severe thalassemia.Methods 980 cases of samples in Qinzhou were detected for the genotype of α thalassemia.α gene deletion type was detected by single tube multiple PCR technique and non-deletion mutant α-thalassemia by reverse dot blot method.Results Among the 980 samples,there were 3 deletion genotypes which were commonly seen in α thalassemia--SEA/,-α 3.7/ and-α 4.2.There were also the commonly seen non-deletion mutants HbCS,HbQS and HbWS.Detection showed that there were 276 cases with α thalassemia(accounting for 28.16%),among which 226 cases had gene deletion type of α-thalassemia(accounting for 81.88%),50 cases had non-deletion mutant α-thalassemia(accounting for 18.12%).There were 35 cases of composite type of αβ-thalassemia,accounting for 3.57%.Conclusion There are special types of thalassemia in Qinzhou city,which can provide guidance to antenatal diagnosis,prevent birth of children with severe thalassemia,and significantly improve population quality.