| MYH9-related platelet disorders. | |
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MedLine Citation:
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PMID: 19408192 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein. Several mutations in the MYH9 gene lead to premature release of platelets from the bone marrow, macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Four overlapping syndromes, known as May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian platelet syndrome, describe different clinical manifestations of MYH9 gene mutations. Macrothrombocytopenia is present in all affected individuals, whereas only some develop additional clinical manifestations such as renal failure, hearing loss, and presenile cataracts. The bleeding tendency is usually moderate, with menorrhagia and easy bruising being most frequent. The biggest risk for the individual is inappropriate treatment due to misdiagnosis of chronic autoimmune thrombocytopenia. To date, 31 mutations of the MYH9 gene leading to macrothrombocytopenia have been identified, of which the upstream mutations up to amino acid approximately 1400 are more likely associated with syndromic manifestations than the downstream mutations. This review provides a short history of MYH9-related disorders, summarizes the clinical and laboratory characteristics, describes a diagnostic algorithm, presents recent results of animal models, and discusses aspects of therapeutic management. |
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Authors:
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Karina Althaus; Andreas Greinacher |
Publication Detail:
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Type: Journal Article; Review Date: 2009-04-30 |
Journal Detail:
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Title: Seminars in thrombosis and hemostasis Volume: 35 ISSN: 1098-9064 ISO Abbreviation: Semin. Thromb. Hemost. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-05-01 Completed Date: 2009-08-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0431155 Medline TA: Semin Thromb Hemost Country: United States |
Other Details:
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Languages: eng Pagination: 189-203 Citation Subset: IM |
Affiliation:
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Institut für Immunologie und Transfusionsmedizin, Ernst-Moritz-Arndt-Universität Greifswald, Sauerbruchstrasse, Greifswald, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Blood Platelet Disorders / diagnosis*, genetics* Humans Molecular Motor Proteins / genetics* Molecular Sequence Data Myosin Heavy Chains / genetics* |
| Chemical | |
Reg. No./Substance:
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0/MYH9 protein, human; 0/Molecular Motor Proteins; 0/Myosin Heavy Chains |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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