Prenatal Diagnosis of Hemoglobinopathies in Hacettepe University, Turkey

BEKSAÇ M. S., GÜMRÜK F., Gurgey A., Cakar N., MÜMÜŞOĞLU S., ÖZYÜNCÜ Ö., ...Daha Fazla

PEDIATRIC HEMATOLOGY AND ONCOLOGY, cilt.28, sa.1, ss.51-55, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.3109/08880018.2010.507690
  • Dergi Adı: PEDIATRIC HEMATOLOGY AND ONCOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.51-55
  • Anahtar Kelimeler: prenatal diagnosis, thalassemia, sickle cell anemia, SICKLE-CELL-ANEMIA, BETA-THALASSEMIA
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Between 1983 and 2008, prenatal diagnostic procedures for identifying hemoglobinopathies were performed in 947 at-risk fetuses. Seventy-six percent of the fetuses were at risk for beta-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of beta-thalassemia and an abnormal hemoglobin of the beta chain. The results of the study showed that beta gene mutations in hemoglobinopathies have a very broad spectrum. Seven hundred and thirty of the 947 fetuses examined using the DNA technique showed 88 different combinations of 27 different mutations. Although the number of fetuses evaluated was far below the desired target, the termination of 261 affected fetuses provided both psychological and economic relief for the parents and was economically beneficial for the country in the long term.