Using genetic diagnostics in hemophilia and von Willebrand disease

摘要: Most bleeding disorders encountered in clinical practice will be diagnosed, at least initially, by phenotypic assays. However, since the characterization of genes that encode coagulation factors 1980s, significant progress has been made translating this knowledge for diagnostic and therapeutic purposes. For hemophilia A B, molecular genetic testing to determine carrier status, prenatal diagnosis, likelihood inhibitor development or anaphylaxis infused factor concentrates is an established component comprehensive management. In contrast, although recent advances our understanding basis von Willebrand disease (VWD) have allowed rational approaches diagnostics, questions remain about complex disorder how incorporate emerging into strategies. This article review state-of-the-art diagnostics both VWD.