Prenatal screen and prenatal diagnosis of thalassemia in Foshan area

Objective:To report the mutation genotype of thalassemia and prenatal diagnosis in last two years in Foshan area.Methods:From July 2007 to July 2009,all patients were required hemotologic detection for thalassemia.3486 doubtful thalassemia suffers were identified by gene diagnosis.Prenatal diagnosis was done on the fetus whose parents were the same type thalassemia.Results:12 mutation types of β thalassemia were detected,which about 42.09% were 41-42/N.The incidence of β thalassemia is 33.94%(872/2569).The incidence of α thalassemia is 40.64%(1318/3243),in which about 74.81% were-SEA/αα.For prenatal diagnosis,41 cases were homozygote or double heterozygote of β thalassemia,26 cases were Hb bart′s dropsy,and 15 cases were Hb H disease.Conclusion:Prenatal screen and prenatal diagnosis is an effective and necessary measure to reduce the birth of severe thalassemia patients.