title: Genetic screening for Krabbe disease: learning from the past and looking to the future.
abstract: In Israel, Krabbe disease is frequent in two Moslem Arab villages in the Jerusalem area. In this paper we present our experience of almost four decades with diagnosis of Krabbe disease, carrier screening and prenatal diagnosis. The screening program is well accepted by the community, and there is a clear trend towards premarital testing. The screening program and prenatal diagnosis have led to a decrease in the incidence of Krabbe disease from 1.6 per 1,000 live births to 0.82 per 1,000.
authors.affiliation: Department of Human Genetics and Metabolic Diseases, Hadassah, Hebrew University Hospital, Jerusalem, Israel.
authors.forename: Michal
authors.initials: M
authors.lastname: Macarov
authors.forename: Joel
authors.initials: J
authors.lastname: Zlotogora
authors.forename: Vardiella
authors.initials: V
authors.lastname: Meiner
authors.forename: Zinab
authors.initials: Z
authors.lastname: Khatib
authors.forename: Vivi
authors.initials: V
authors.lastname: Sury
authors.forename: Getu
authors.initials: G
authors.lastname: Mengistu
authors.forename: Ruth
authors.initials: R
authors.lastname: Bargal
authors.forename: Esther
authors.initials: E
authors.lastname: Shmueli
authors.forename: Bela
authors.initials: B
authors.lastname: Meidan
authors.forename: Marsha
authors.initials: M
authors.lastname: Zeigler
mesh_terms: D002675:Child, Preschool; D005190:Family; D005820:Genetic Testing; D006306:Health Surveys; D006579:Heterozygote; D006801:Humans; D007858:Learning; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics*; D011296:Prenatal Diagnosis