Genetic diagnosis in hemophilia and von Willebrand disease.
Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. 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 the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies.
Department of Pathology and Molecular Medicine, Richardson Laboratory, 88 Stuart St, Queen's University, Kingston, ON K7L 3N6, Canada. Electronic address: swystunl@queensu.ca.
Laura L
LL
Swystun
Department of Medicine, Etherington Hall, 94 Stuart St, Queen's University, Kingston, ON K7L 3N6, Canada. Electronic address: jamesp@queensu.ca.
Paula D
PD
James
D005169:Factor VIII / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011785:Quality Assurance, Health Care; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics
D014841:von Willebrand Factor; D005169:Factor VIII
Bleeding disorder; Genotyping; Hemophilia; von Willebrand disease