Analysis of thalassemia screening and gene diagnosis in childbearing couple

Objective:By screening thalassemia in childbearing couple to prevent the major thalassemia.Methods:From January 2009 to December 2011,childbearing couple of obstetrics clinic and premarriage health clinic in our hospital were screened thalassemia by routine blood test and hemoglobin electrophoresis analyses,and then confirmed by molecular analysis of Gap-PCR and reverse dot blot.Results: by hemoglobin electrophoresis,the rate of α-thalassemia was 20.3%,of β-thalassemia was 11.3%.The α and β-thalassemia consistency of hemoglobin electrophoresis and molecular was 74.5% and 93.0% respectively.Conclusion: Southern China burden high frequency of thalassemia,and childbearing couple screening and prenatal diagnosis is necessary to prevent major thalassemia.