title: Using genetic diagnostics in hemophilia and von Willebrand disease.
abstract: Most bleeding disorders encountered in clinical practice will be diagnosed, at least initially, by phenotypic assays. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For hemophilia A and B, molecular genetic testing to determine carrier status, prenatal diagnosis, and likelihood of inhibitor development or anaphylaxis to infused coagulation factor concentrates is an established component of comprehensive clinical management. In contrast, although significant recent advances in our understanding of the molecular genetic basis of von Willebrand disease (VWD) have allowed for the development of rational approaches to genetic diagnostics, questions remain about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies. This article will review the state-of-the-art for molecular diagnostics for both hemophilia and VWD.
authors.affiliation: Departments of Pathology & Molecular Medicine and.
authors.forename: Laura L
authors.initials: LL
authors.lastname: Swystun
authors.affiliation: Medicine, Queen's University, Kingston, ON, Canada.
authors.forename: Paula
authors.initials: P
authors.lastname: James
mesh_terms: D000465:Algorithms; D000707:Anaphylaxis; D001779:Blood Coagulation Factors / Q000378:metabolism; D005091:Exons; D005169:Factor VIII / Q000235:genetics; D005820:Genetic Testing; D015894:Genome, Human; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007438:Introns; D009154:Mutation; D011296:Prenatal Diagnosis; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D001779:Blood Coagulation Factors; D014841:von Willebrand Factor; D005169:Factor VIII