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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 ...
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 thrombocythemia is used, as ...
Harris platelet syndrome was identified among healthy blood donors in the north-eastern part of the Indian subcontinent, characterized by absent bleeding symptoms, mild to severe thrombocytopenia (platelets rarely < 50 × 10 9 /L) with giant platelets (Mean platelet volume 10fL) and normal platelet aggregation studies with absent MYH9 mutation.
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 ...
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.
Less than 100 cases have been reported. [3] Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. [4] CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase.
Platelets are regulators of hemostasis and thrombosis. Platelets become active in the blood following vascular injury. Vascular injury causes platelets to stick to the cellular matrix that is exposed under the endothelium, form a platelet plug, and then form a thrombus. Platelets are essential in the formation of an occlusive thrombus and are ...