Prevalence and Genotype Analysis of Newborn α-Thalassemia in Wuhan Area of China

Abstract

To investigate the genotypes of newborn α-thalassemia and to analyze its characteristics of molecular epidemiology in Wuhan area. The newborn α-thalassemia gene in 1376 cases with positive confirmed in the primary screening in Wuhan area was detected by PCR, flow cytometry and FISH. The α-thalassemia in 436 newborns and α- β-composite thalassemia in 10 newborns were confirmed by detection in Wuhan area. The majority of thalassemia cases [up to 92.20% (402/436)] were found to be minor and static type thalassemia including 237 cases of -SEAαα (54.36%), 135 cases of -α3.7 / αα (30.96%) and 30 case of -α4.2/αα (6.88%), however, the intermediate type -α3.7/-SEA was found in 1 newborn. The -SEA/detetion, -α3.7/detetion and -α4.2/detetion were major in the detetion, the frequency was 54.12%, 32.29% and 7.13%, respectively; while the αCS mutation, αQS mutation and αWS mutation were less in the mutation, their frequency was 3.7%, 2.45% and 0.22% respectively. The minor and static type newborn thalassemia is most common, the incidence of detetion type -SEA/αα, -α3.7/αα and α4.2/αα is more high in Wuhan area of china.