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One common definition of thrombocytopenia requiring emergency treatment is a platelet count below 50,000/μL. [5] Thrombocytopenia can be contrasted with the conditions associated with an abnormally high level of platelets in the blood – thrombocythemia (when the cause is unknown), and thrombocytosis (when the cause is known). [6] [7]
Therefore, ITP is a significant cause of fetal and neonatal immune thrombocytopenia. Approximately 10% of newborns affected by ITP will have platelet counts <50,000/uL and 1% to 2% will have a risk of intracerebral hemorrhage, comparable to that of infants with neonatal alloimmune thrombocytopenia (NAIT). [64] [65]
TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. [1] It is associated with cardiac defects, dysmorphic features, and petechiae.
Thrombotic thrombocytopenic purpura (TTP) initially presents with a range of symptoms that may include severe thrombocytopenia (platelet count usually < 30,000/mm³), microangiopathic hemolytic anemia (evidenced by schistocytes in the blood smear), and various clinical signs such as petechiae, purpura, neurologic symptoms, myocardial ischemia ...
Evans syndrome is an autoimmune disease in which an individual's immune system attacks their own red blood cells and platelets, the syndrome can include immune neutropenia. [1] [2] These immune cytopenias may occur simultaneously or sequentially.
Giant platelet disorders can be further categorized: [6] caused by auto-immune disorders, for example Immune thrombocytopenic purpura (ITP), and characterized by low platelet count, but high MPV (mean platelet volume). [7] Caused by glycoprotein abnormalities: Bernard–Soulier syndrome, velocardiofacial syndrome
Platelet storage pool deficiency is a family of clotting disorders characterized by deficient granules in platelets.Individuals with these disorders have too few or abnormally functioning alpha granules, delta granules, or both alpha and delta granules and are therefore unable to form effective clots, which leads to prolonged bleeding.
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 ]