title: Premarital screening of hemoglobinopathies: a pilot study in Turkey.
abstract: To identify premarital couples who are carriers for hemoglobinopathies, a screening study was conducted in one of the southern cities of Turkey. For 2,113 couples, total blood count, Hb A2 and Hb F levels were determined and hemoglobin electrophoresis was performed. The frequency of Hb S was 4.6% and beta thalassemia 2.3%. In 35 of 2,113 prospective families, both partners were found to be carriers. During the 4-year follow-up period, prenatal diagnosis was sought in 10 pregnancies of these at-risk families. This study indicated that premarital screening is a very useful tool for detecting carrier couples. The immediate beneficial effect of this study was the application of prenatal hemoglobinopathy diagnosis from the first pregnancy.
authors.affiliation: Department of Pediatric Hematology, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Altay
authors.forename: E
authors.initials: E
authors.lastname: Yilgör
authors.forename: S
authors.initials: S
authors.lastname: Beksac
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
mesh_terms: D001772:Blood Cell Count; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis*; D006454:Hemoglobins / Q000145:classification; D006801:Humans; D008297:Male; D010865:Pilot Projects; D011247:Pregnancy; D011291:Premarital Examinations; D011296:Prenatal Diagnosis; D014421:Turkey
chemical_list: D006454:Hemoglobins