A novel type 2N VWF gene mutation: A case report

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.