Prevalence and Genotype Analysis of Newborn α-Thalassemia in Wuhan Area of China / 中国实验血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the genotypes of newborn α-thalassemia and to analyze its characteristics of molecular epidemiology in Wuhan area.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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 -αα (54.36%), 135 cases of -α/ αα (30.96%) and 30 case of -α/αα (6.88%), however, the intermediate type -α/-was found in 1 newborn. The -/detetion, -α/detetion and -α/detetion were major in the detetion, the frequency was 54.12%, 32.29% and 7.13%, respectively; while the αmutation, αmutation and αmutation were less in the mutation, their frequency was 3.7%, 2.45% and 0.22% respectively.</p><p><b>CONCLUSION</b>The minor and static type newborn thalassemia is most common, the incidence of detetion type -/αα, -α/αα and α/αα is more high in Wuhan area of china.</p>