Analysis on Gene Mutation Types and Frequencies of 240 Cases of Thalassemia

Objective To explore the gene mutation types and frequencies of α-thalassemia and β-thalassemia in Guangxi.Methods The gene mutation types and gene frequencies of 240 suspected thalassemia patients were analyzed by polymerase chain reaction (PCR) and reverse dot blot (RDB).Results Among the 240 cases,127 cases wereα-talassemia,including 70 cases of--SEA/αα,5 cases of-α3.7/αα rightward deletion type,25 cases of-α4.2/αα,21 cases of HbCS,2 cases of HbQS,and 4 cases of HbWS.53 cases were β-thalassemia,including 3 cases of IVS1-1 heterozygote,24 cases of CD41-42 heterozygote,11 cases of CD17 heterozygote,6 cases of-28 heterozygote,3 cases of CD654 heterozygote,2 cases of CD43 heterozygote,and 4 cases of CD71-72.18 cases were α-and β-complex thalassemia.Conclusions The gene mutation types and frequencies of α-thalassemia and β-thalassemia among the population of Guangxi are preliminarily clarified,and these results provide a theoretical basis for the genetic testing services of thalassemia in this region.