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Bleeding disorders/Coagulopathy

280500

The term "bleeding disorder" describes a diverse set of illnesses brought on by deficits in coagulation factors or platelet function. The three types of bleeding diseases are: 1) the uncommon inherited coagulation factor deficits; 2) the common inherited bleeding disorders, hemophilia A, B, and von Willebrand disease (VWD); and 3) the hereditary platelet disorders (PMID: 24124085). The most prevalent hereditary bleeding condition, VWD, affects up to 1% of the general population and is equally frequent in men and women. The panel covers the following phenotypes: thrombocytopenia 2, familial platelet syndrome with a predisposition to acute myelogenous leukemia, Hermansky Pudlak syndrome, Wiskott-Aldrich syndrome, Bernard Soulier syndrome, Glanzmann disease, hemophilia A and B, gray platelet syndrome, and VWD. Patients with inherited bleeding disorders are today regularly treated in clinical settings using the molecular knowledge obtained from genetic testing.