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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 ...
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 ...
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 ] Symptoms may include large bruises, fever, weakness, shortness ...
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive [1] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
Platelet transfusion [4] 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 ...
0.6-2.5/100,000 cases per year. [ 2 ] 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 ]
Specialty. Dermatology, hematology. Purpura (/ ˈpɜːrpjʊərə / [1]) is a condition of red or purple discolored spots on the skin that do not blanch on applying pressure. The spots are caused by bleeding underneath the skin secondary to platelet disorders, vascular disorders, coagulation disorders, or other causes. [2]
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 ...