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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.
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]
One common definition of thrombocytopenia requiring emergency treatment is a platelet count below 50,000/μL. [5] Thrombocytopenia can be contrasted with the conditions associated with an abnormally high level of platelets in the blood – thrombocythemia (when the cause is unknown), and thrombocytosis (when the cause is known). [6] [7]
Platelet disorders are either congenital or acquired. Examples of congenital platelet disorders are Glanzmann's thrombasthenia, Bernard–Soulier syndrome (abnormal glycoprotein Ib-IX-V complex), gray platelet syndrome (deficient alpha granules), and delta storage pool deficiency (deficient dense granules). Most are rare.
Disorders of platelet function can be congenital or acquired. Most of these disorders are mild and may respond to therapy with desmopressin (dDAVP). Transfusion is not necessarily required. However, with some more severe disorders such as Glanzmann thrombasthenia, transfusions with large amount of platelets may be needed.
Though it is named for associated low platelet counts, HIT is strongly associated with risk of venous and arterial thrombosis. [19] Paroxysmal nocturnal hemoglobinuria (PNH) is a rare condition resulting from acquired alterations in the PIGA gene, which plays a role in the protection of blood cells from the complement system.
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.
Bone marrow failure in both children and adults can be either inherited or acquired. Inherited bone marrow failure is often the cause in young children, while older children and adults may acquire the disease later in life. [3] Acquired bone marrow failure may be due to aplastic anemia [4] or myelodysplastic syndrome.
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