title: Prenatal diagnosis of hemoglobinopathies in Hacettepe University, Turkey.
abstract: 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 β-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of β-thalassemia and an abnormal hemoglobin of the β chain. The results of the study showed that β 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.
authors.affiliation: Division of Maternal Fetal Medicine and Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
authors.forename: M Sinan
authors.initials: MS
authors.lastname: Beksac
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
authors.forename: Nur
authors.initials: N
authors.lastname: Cakar
authors.forename: Sezcan
authors.initials: S
authors.lastname: Mumusoglu
authors.forename: Ozgur
authors.initials: O
authors.lastname: Ozyuncu
authors.forename: Cigdem
authors.initials: C
authors.lastname: Altay
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D011296:Prenatal Diagnosis; D012307:Risk Factors; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics