Men and boys whopresent with bleeding associated with low factor VIII levels and normal von Willebrand studies are assumed to have hemophilia A until proven otherwise. However, routinely available coagulation assays cannot easily distinguish mild hemophilia A from the 2N variant of von Willebrand disease. Wepresent a case that highlights the difficulties of recognizing this diagnosis, the role of genetic testing, and the identification of a 2Nvariant that has not been previously described.
|Original language||English (US)|
|Number of pages||2|
|Journal||Blood Coagulation and Fibrinolysis|
|State||Published - 2018|
All Science Journal Classification (ASJC) codes