macrothrombocytopenia

macrothrombocytopenia

(mak?ro-throm?bo-sit-o-pe'ne-a) [? + ? + ? + penia, lack]
Deficiency of macrothrombocytes.
See: Alport's syndrome
References in periodicals archive ?
The MYH9-related disorders encompass a group of macrothrombocytopenia with or without deafness, renal failure, cataracts, and transaminitis that can present with the pathognomonic finding of Dohle-like bodies within the cytoplasm of neutrophils.
Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.
Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new 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.
Many patients with Bernard-Soulier disease have moderately severe thrombocytopenia with large platelets, and this disorder is included with the macrothrombocytopenia syndromes discussed herein.
In addition, [alpha]-SPD (Gray platelet syndrome) has decreased alpha granules and is usually considered a macrothrombocytopenia.
The rare macrothrombocytopenia disorders are all congenital in nature and most are inherited in an autosomal dominant fashion.
Several macrothrombocytopenia disorders are characterized by the presence of neutrophilic inclusions.
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.
Laboratory findings: The patient had macrothrombocytopenia, neutropenia, and complete lack of sialyl [Le.
Indirect study of thrombopoiesis (TPO, reticulated platelets, glycocalicin) in patients with hereditary macrothrombocytopenia.