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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 ...
Thrombocythemia. 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 ...
Harris platelet syndrome, previously known as asymptomatic constitutional macrothrombocytopenia, is the most common inherited giant platelet disorder in the Indian subcontinent. It is characterized by a functional thrombocytopenia due to the presence of giant platelet cells.
Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec, Canada. [1][2] The disorder is characterized by large amounts of the fibrinolytic enzyme urokinase -type plasminogen activator (uPA) in platelets. [3] This causes accelerated fibrinolysis (blood clot breakdown ...
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. As a result, no fibrinogen bridging of platelets to other ...
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.
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).