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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 ...
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.
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]
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 ...
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).
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. [1][2] ITP often results in an increased risk of bleeding from mucosal surfaces (such as the nose or gums) or ...
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.
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