Genetic diagnosis in hemophilia and von Willebrand disease

• Published in: Blood reviews Vol. 31; no. 1; pp. 47 - 56
• Main Authors: Swystun, Laura L., James, Paula D.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.01.2017
• Subjects: Bleeding disorder; Factor VIII - genetics; Genetic Predisposition to Disease; Genetic Testing - methods; Genetic Testing - standards; Genotyping; Hematology, Oncology and Palliative Medicine; Hemophilia; Hemophilia A - diagnosis; Hemophilia A - genetics; Hemophilia B - diagnosis; Hemophilia B - genetics; Humans; Mutation; Quality Assurance, Health Care; von Willebrand disease; von Willebrand Diseases - diagnosis; von Willebrand Diseases - genetics; von Willebrand Factor - genetics; von Willebrand disease; Bleeding disorder; Genotyping; Hemophilia
• ISSN: 0268-960X; 1532-1681; 1532-1681
• DOI: 10.1016/j.blre.2016.08.003

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.