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

OBJECTIVE: To investigate the genotypes of newborn α-thalassemia and to analyze its characteristics of molecular epidemiology in Wuhan area.

METHODS: 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.

RESULTS: 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 -SEA αα (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.

CONCLUSION: 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.