12 Chapter 1 80-85 percent of all hemophilia cases 38. In approximately 70% of all cases, hemophilia is the result of an inherited gene mutation on the X chromosome 38-40. The remaining 30% have no known familial history 38,39. Due to the X-linked inheritance, hemophilia generally affects men 41,42. Women are diagnosed with hemophilia when their FVIII/FIX levels are < 0.40 IU/mL and are often carriers of the disease 38. Hemophilia patients are classified according to the residual factor levels into severe (FVIII of FIX < 0.01 IU/mL), moderate (FVIII of FIX 0.01-0.05 IU/mL), and mild hemophilia (FVIII of FIX 0.06-0.40 IU/mL) 38,43,44. Patients with severe hemophilia suffer from (spontaneous) bleeding in especially joints and muscles 36,38,41. Patients with mild or moderate hemophilia mainly experience bleeds after trauma or surgery 36,38. Von Willebrand disease Von Willebrand disease, the most common inherited bleeding disorder worldwide, is caused by quantitative or qualitative deficiencies of von Willebrand factor (VWF) 45,46. Von Willebrand disease is traditionally classified into three types: type 1, type 2 and type 3 45,46. Most of the patients with von Willebrand disease are diagnosed with type 1. Less than 5% of the patients are diagnosed with the most severe type of von Willebrand disease, type 3 47. All types of von Willebrand disease have an autosomal inheritance pattern and therefore affect both men and women 48. Patients with von Willebrand disease most commonly experience mucocutaneous bleeding symptoms (e.g., epistaxis, easy bruising, gum bleeding and heavy menstrual bleeding), and/or bleeding after a hemostatic challenge such as childbirth, surgeries or invasive dental procedures. In addition, patients with von Willebrand disease may experience gastrointestinal or joint bleeding 47,48. Inherited platelet function disorders Inherited platelet function disorders are a heterogeneous group of diseases that exhibit an autosomal or X-linked inheritance pattern 49. Inherited platelet function disorders are caused by defects in the adhesion, activation, secretion or aggregation of platelets 50. The type of platelet defect determines the severity of the bleeding symptoms. Patients with an inherited platelet function disorder typically experience mucocutaneous bleeding symptoms and/or excessive bleeding after a hemostatic challenge 49-51. In contrast to patients with
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