Abstract

Objective: Determine the type of thalassemia mutation of pregnant women and their husbands in Thua Thien Hue province. Diagnose the abnormalities of thalassemia in fetuses whose mothers and fathers carry genes. Methods: Using a cross-sectional study. 3052 women living in Hue city, Phu Vang district, Aluoi district and Nam Dong district. Results: The prevalence of pregnant women carying the thalassemia gene mutation was 8.45%, 4.39% were a-thalassemia carriers, 3.77% were -thalassemia carriers and 0.29% were a/ -thalassemia carriers. 4 types of a-thalassemia allele were detected, including: −α3.7, α−CS, α4.2 SEA, α3.7 was the most common allele in Aluoi district (62.07%), as for Nam Dong district, it was αCS (73.07%) and SEA was the dominant allele found in both Phu Vang district and Hue city with 68% and 73.78%. Among the 258 husbands screened for this disease, the highest mutation rate reported in Aluoi district was −α3,i (51.85%), in Nam Dong district was-−αCS SEA (50% each), in Phu Vang district and in Hue city was --SEA (100%). 6 types of mutant -thalassemia allele were determined: βE, β17 β71−72 β28, βcct95 βlVSl−1 HbE mutation was the most common in both genders with 85.16% and 85.72%. 42 children of 42 couples carried gene: Among 5 prenatal diagnosed children (1 case with diheterozygous HbE/ -thalassemia was indicated for termination of pregnany). 29 children had umbilical cord blood test, 18 had a-thalassemia with mutant allele −αCS; −α3.7 which took the highest proportion (45% each); 7 had -thalassemia with heterozygous HbE (87.5%). 8 children were not screened. Genetic counseling, prenatal and postnatal diagnosis for children of Thalassemia gene carriers are very essential to the early detection and management of this disease