Prenatal diagnosis of hemoglobinopathies in Turkey: Hacettepe experience

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

Pediatric Hematology and Oncology, cilt.13, sa.2, ss.163-166, 1996 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 2
  • Basım Tarihi: 1996
  • Doi Numarası: 10.3109/08880019609030807
  • Dergi Adı: Pediatric Hematology and Oncology
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.163-166
  • Anahtar Kelimeler: prenatal diagnosis, sickle cell anemia, thalassemia
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.