Incidence and genetic test of αβ-thalassemia

Objective This study was aimed to investigate the incidence and genetic test of αβ-thalassemia in Qinzhou area to understand their detection and gene distribution.Methods Three common deletions of α-thalassemia were detected by using gapPCR and 17β-thalassemia mutation was detected by reverse dot blot(RDB).Results The results indicated that 39 cases from the 250 β-thalassemia traits were found to be the compound heterozygosity for β-thalassemia and α-thalassemia with 15.6% detection rate.There were 8 different types of gene defects.There were 24 cases(9.6%) of β-thalassemia heterozygote combining α-thalassemia-gene(——SEA/αα),10 cases(4%) combining with α-thalassemia-gene(-α3.7/αα),including 4 cases(1.6%)(-α4.2/αα),and 1 case(0.4%) combining with HbH gene(——SEA/-α4.2).In the 39 heterozygotes,8 types mutation were as follow:41-42(TCTT),TATAbox 28(A→G),CD17(A→T),IVS II 654(C→T),CD71-72(+A),βE(G→A),CD43(G→T) and IVS1-1(G→T).Conclusion It is concluded that the incidence of β-thalassemia heterozygotes combining with deletional α-thalassemia is frequent in Qinzhou city.The hematological analysis can not give specificity for diagnosing these dual heterozygotes.GapPCR as a routine method for thalassemia screening has the advantages in reducing the possibility of failing to detect theαβ-thalassemia.It is more useful to prevent severe thalassemia on the birth of children,and to improve the quality of the population is of great significance.