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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 ...
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor. [5] The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan.
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 ...
Thrombocythemia. In hematology, thrombocythemia is a condition of high platelet (thrombocyte) count in the blood. Normal count is in the range of 150 × 10 9 to 450 × 10 9 platelets per liter of blood, [1] but investigation is typically only considered if the upper limit exceeds 750 × 10 9 /L. When the cause is unknown, the term ...
Actin-binding proteins have been linked to maintaining the structure of the large platelets. However, enzymatic activity allows for functional clotting activity regardless of the size of the thrombocytes. [7] Genomic studies have found mutations in various pathways that could be the cause of Harris platelet syndrome, but further studies are ...
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 ...
May–Hegglin anomaly. Other names. Döhle leukocyte inclusions with giant platelets and Macrothrombocytopenia with leukocyte inclusions[1] Specialty. Hematology. May–Hegglin anomaly (MHA), is a rare genetic disorder of the blood platelets that causes them to be abnormally large.
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 ...