Laboratory tests for precise classification and genetic analysis of von Willebrand disease.
von Willebrand disease (vWD) is the most common inherited bleeding disorder, which is highly heterogeneous ranging from asymptomatic laboratory abnormality to a life threatening bleeding. The condition is caused by a quantitative or qualitative deficiency of von Willebrand factor (vWF). Since 1994 it has been classified into six subgroups based on evaluation of the vWF level and function. Correct classification of vWD is required for its optimal management. vWD is inherited as a dominant or recessive trait linked to the vWF gene. However, the inheritance of type 1 vWD is not always linked to the vWF gene and novel modifying genes are expected to play a significant role in the type 1 pathophysiology. Laboratory tests required for correct type classification and for genetic analysis have long been awaited in Czech Republic. The purpose of this report is to inform about discriminatory and genetic tests recently made available at the Institute of Haematology and Blood transfusion.
Institute of Haematology and Blood Transfusion, U Nemocnice 1, Prague 2, Czech Republic. dh@uhkt.cz
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Vorlová
D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics
D014841:von Willebrand Factor