Article
Genetic diagnosis in hemophilia and von Willebrand disease.
Blood reviews - 1 Jan 2017
Swystun Laura L, James Paula D
Abstract excerpt
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...
Topics
- Factor VIII
- Genetic Predisposition to Disease
- Genetic Testing
- Hemophilia A
- Hemophilia B
- Humans
- Mutation
- Quality Assurance, Health Care
- von Willebrand Diseases
- von Willebrand Factor