Types of gene mutation for αβ-thalassemia and the prevalence in Liuzhou.

Objectives:To investigate the types of gene mutation for αβ-thalassemia and the prevalence in Liuzhou.Methods:RDB(Reverse dot blot)technique was used to detect β-thalassemia genes and gap-PCR technique was used to detect three common deficient genotypes for α-thalassemia:-SEA-α3.7and-α4.2.Results:Out of the 153 cases with β-thalassemia,30 were detected with α-thalassemia(19.61%).all were slight β-thalassemia complicated with α-thalassemia.Among them,β-thalassemia heterozygote complicated with——SEA/αα accounted for 90.00%,β-thalassemia heterozygote complicated with-α3.7/αα accounted for 3.33% and β-thalassemia heterozygote complicated with-α4.2/αα accounted for 6.67%.Conclusion:Liuzhou shows a high prevalence of αβ-thalassemia,with——SEA/αα as the main α-thalassemia genotype.Accurate diagnosis of double heterozygote of αβ-thalassemia is of importance for correct genetic counseling.