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Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to injured blood vessel walls, resulting in abnormal bleeding when injured. Giant platelet disorder occurs for inherited diseases like ...
Harris platelet syndrome was identified among healthy blood donors in the north-eastern part of the Indian subcontinent, characterized by absent bleeding symptoms, mild to severe thrombocytopenia (platelets rarely < 50 × 10 9 /L) with giant platelets (Mean platelet volume 10fL) and normal platelet aggregation studies with absent MYH9 mutation.
Immune thrombocytopenic purpura (ITP), also known as idiopathic thrombocytopenic purpura or immune thrombocytopenia, is an autoimmune primary disorder of hemostasis characterized by a low platelet count in the absence of other causes. [1][2] ITP often results in an increased risk of bleeding from mucosal surfaces (such as the nose or gums) or ...
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. As a result, no fibrinogen bridging of platelets to other ...
In hematology, essential thrombocythemia (ET) is a rare chronic blood cancer (myeloproliferative neoplasm) characterised by the overproduction of platelets (thrombocytes) by megakaryocytes in the bone marrow. [ 3 ] It may, albeit rarely, develop into acute myeloid leukemia or myelofibrosis. [ 3 ] It is one of the blood cancers wherein the bone ...
Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec, Canada. [1][2] The disorder is characterized by large amounts of the fibrinolytic enzyme urokinase -type plasminogen activator (uPA) in platelets. [3] This causes accelerated fibrinolysis (blood clot breakdown ...
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. [ 3 ...
Sticky platelet syndrome (SPS) is a heritable disorder of platelet function in which platelet hyperaggregation leads to hypercoagulability. [1][2][3][4][5] It was first described by Mammen in 1983. [6] It is inherited in an autosomal dominant pattern. [7] It has not been associated with a specific gene, and it is not recognized as an entity in ...