Article
A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis.
Thrombosis research - 1 Oct 2015
Hatta Kyoko, Kunishima Shinji, Suganuma Hiroki, Tanaka Noboru, Ohkawa Natsuki, Shimizu Toshiaki
Abstract excerpt
Type 2B von Willebrand disease (VWD) is frequently associated with distinct platelet morphology. Here we present a familial case of type 2B VWD with a novel VWF mutation (p.R1308S), which caused neonatal thrombocytopenia. The mother had been treated for refractory immune thrombocytopenia (ITP) for more than 20years. The most important hematological features of this case were large platelets and platelet...
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