Prenatal diagnosis of hemoglobinopathies in Turkey: Hacettepe experience

GÜRGEY A., Beksaç S., GÜMRÜK F., Çakar N., Mesçi L., Altay S., ...More

Pediatric Hematology and Oncology, vol.13, no.2, pp.163-166, 1996 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 2
  • Publication Date: 1996
  • Doi Number: 10.3109/08880019609030807
  • Journal Name: Pediatric Hematology and Oncology
  • Journal Indexes: Scopus
  • Page Numbers: pp.163-166
  • Keywords: prenatal diagnosis, sickle cell anemia, thalassemia
  • Hacettepe University Affiliated: Yes


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 DNA obtained from chorionic villus samples. Sixty-six percent of the fetuses were at risk for beta thalassemia major and 28% for sickle cell anemia. Beta thalassemia mutations were heterogenous, and 51 fetuses examined by the DNA technique were found to be at risk for at least 20 different combinations.