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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.
RUNX1 Familial Platelet Disorder (RUNX1-FPD) also known as Familial platelet disorder with associated myeloid malignancies, FPDMM, is a rare inherited disease caused by one of over 100 known variants (i.e., mutations) in an individual’s RUNX1 gene.
A disorder of platelet function is called a thrombocytopathy or a platelet function disorder. [ 4 ] : vii Normal platelets can respond to an abnormality on the vessel wall rather than to hemorrhage, resulting in inappropriate platelet adhesion/activation and thrombosis : the formation of a clot within an intact vessel.
Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation. [1]Normally when a vascular injury occurs (i.e., a cut, scrape or other injury that causes bleeding), platelets are activated and phosphatidylserine (PS) in the inner leaflet of the platelet membrane is transported to the outer leaflet of the platelet membrane ...
Low levels of platelets in turn may lead to prolonged or excessive bleeding. It is the most common coagulation disorder among intensive care patients and is seen in a fifth of medical patients and a third of surgical patients. [3] A normal human platelet count ranges from 150,000 to 450,000 platelets/microliter (μL) of blood. [4]
Giant platelet disorder; Two giant platelets (stained purple) are visible in this image from a light microscope (40×) from a peripheral blood smear surrounded by red blood cells. One normal platelet can be seen in the upper left side of the image (purple) and is significantly smaller in size than the red blood cells (stained pink). Specialty ...
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).
Light transmission aggregometry is widely accepted as the gold standard diagnostic tool for assessing platelet function, and a result of absent aggregation with any agonist except ristocetin is highly specific for Glanzmann's thrombasthenia. [9] Following is a table comparing its result with other platelet aggregation disorders:
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