PRENATAL-DIAGNOSIS OF HEMOGLOBINOPATHIES IN TURKEY - HACETTEPE EXPERIENCE

Prenatal diagnosis of hemoglobinopathies was performed in 250 fetuses at risk for hemoglobinopathies. The main diagnostic procedures were in vitro hemoglobin synthesis analysis in fetal blood and analysis of DN A obtained from chorionic villus samples. Sixty-six percent of the fet uses were at risk for beta thalassemia major and 28% for sickle cell a nemia. Beta thalassemia mutations were heterogenous, and 51 fetuses ex amined by the DNA technique were found to be at risk for at least 20 d ifferent combinations.