macrothrombocytopenia

macrothrombocytopenia

(mak?ro-throm?bo-sit-o-pe'ne-a) [? + ? + ? + penia, lack]
Deficiency of macrothrombocytes.
See: Alport's syndrome
References in periodicals archive ?
Indirect study of thrombopoiesis (TPO, reticulated platelets, glycocalicin) in patients with hereditary macrothrombocytopenia.
Laboratory findings: The patient had macrothrombocytopenia, neutropenia, and complete lack of sialyl [Le.
Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions.
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
Idiopathic thrombocytopenic purpura is known to be due to platelet sensitization, with autoantibodies leading to platelet destruction in the reticuloendothelial system; peripheral smears may show variable macrothrombocytopenia and autoantibodies to specific surface glycoproteins can be detected by flow cytometry or immunoassay, (95) although diagnosis is largely from clinical findings.
There are several rare macrothrombocytopenia syndromes without neutrophil inclusions, which are generally characterized by either surface glycoprotein abnormalities or platelet functional defects.
Several macrothrombocytopenia disorders are characterized by the presence of neutrophilic inclusions.
The 2 other macrothrombocytopenia disorders with neutrophilic inclusion are Fechtner syndrome and Sebastian syndrome.
Giant platelets observed with macrothrombocytopenia syndromes can give false low platelet counts, because the large platelets may be counted as leukocytes by automated cell counters.
In von Willebrand disease, Glanzmann thrombasthenia, and myeloproliferative disorders, the platelets have typical morphologic features, whereas giant platelets are seen in Bernard-Soulier disease and other macrothrombocytopenia syndromes.
Mutations in the MYH9 gene encoding for the nonmuscle myosin heavy chain IIA result in a spectrum of macrothrombocytopenia disorders with neutrophil inclusions referred to as MYH9 disorders.
Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?