title: Haemophilia: strategies for carrier detection and prenatal diagnosis.
abstract: In 1977 WHO published in the Bulletin a Memorandum on Methods for the Detection of Haemophilia Carriers. This was produced following a WHO/WFH (World Federation of Haemophilia) Meeting of Investigators in Geneva in November 1976, and has served as a valuable reference article on the genetics of haemophilia. The analyses discussed were based on phenotypic assessment, which, at that time, was the only procedure available. The molecular biology revolution in genetics during the 1980s made enormous contributions to our understanding of the molecular basis of the haemophilias and now permits precise carrier detection and prenatal diagnosis. WHO and WFH held a joint meeting on this subject in February 1992 in Geneva. This article is the result of these discussions.
authors.affiliation: Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, England.
authors.forename: I R
authors.initials: IR
authors.lastname: Peake
authors.forename: D P
authors.initials: DP
authors.lastname: Lillicrap
authors.forename: V
authors.initials: V
authors.lastname: Boulyjenkov
authors.forename: E
authors.initials: E
authors.lastname: Briet
authors.forename: V
authors.initials: V
authors.lastname: Chan
authors.forename: E K
authors.initials: EK
authors.lastname: Ginter
authors.forename: E M
authors.initials: EM
authors.lastname: Kraus
authors.forename: R
authors.initials: R
authors.lastname: Ljung
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
authors.forename: K
authors.initials: K
authors.lastname: Nicolaides
mesh_terms: D001483:Base Sequence; D002648:Child; D016002:Discriminant Analysis; D005164:Factor IX / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005821:Genetic Techniques; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D016017:Odds Ratio; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005169:Factor VIII; D005164:Factor IX