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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.
A normal human platelet count ranges from 150,000 to 450,000 platelets/microliter (μL) of blood. [4] Values outside this range do not necessarily indicate disease. One common definition of thrombocytopenia requiring emergency treatment is a platelet count below 50,000/μL. [ 5 ]
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).
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.
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]
Platelet storage pool deficiency; Platelet transfusion refractoriness; Pratt Test; Primary fibrinogenolysis; Procoagulant platelets; Protein C deficiency; Protein S deficiency; Prothrombin G20210A; Pseudo gray platelet syndrome; Purpura fulminans
Fibrinogen is a glycoprotein made and secreted into the blood primarily by liver hepatocyte cells. Endothelium cells also make what appears to be small amounts of fibrinogen but this fibrinogen has not been fully characterized; blood platelets and their precursors, bone marrow megakaryocytes, although once thought to make fibrinogen, are now known to take up and store but not make the ...
This results in platelet activation and the formation of platelet microparticles, which initiate the formation of blood clots; the platelet count falls as a result, leading to thrombocytopenia. [1] [7] In addition, the reticuloendothelial system (mostly the spleen) removes the antibody-coated platelets, further contributing to the thrombocytopenia.
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