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X-linked thrombocytopenia, also referred to as XLT or thrombocytopenia 1, is an inherited clotting disorder that primarily affects males.It is a WAS-related disorder, meaning it is caused by a mutation in the Wiskott–Aldrich syndrome (WAS) gene, which is located on the short arm of the X chromosome. [1]
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in small blood vessels throughout the body. [2] This results in a low platelet count, low red blood cells due to their breakdown, and often kidney, heart, and brain dysfunction. [1]
Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions. [1] It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion. It is known to affect several ...
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Glanzmann's thrombasthenia is an abnormality of the platelets. [2] It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen.
Congenital TTP is a life-threatening, rare genetic disorder with debilitating chronic symptoms. It leads to abnormal clotting in the small blood vessels throughout the body and is associated with ...