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Vol. 37, No. 5, 2010
Issue release date: October 2010
Section title: Review Article · Übersichtsarbeit
Free Access
Transfus Med Hemother 2010;37:260–267
(DOI:10.1159/000320335)

MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis

Althaus K. · Greinacher A.
Institut für Immunologie und Transfusionsmedizin, Ernst-Moritz-Arndt Universität Greifswald, Germany

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Abstract

MYH-9 related platelet disorders belong to the group of inherited giant platelet disorders. The MYH-9 gene encodes the non-muscular myosin heavy chain IIA (NMMHCIIA), a cytoskeletal contractile protein. Several mutations in the MYH-9 gene lead to macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes, while the number of megakaryocytes in the bone marrow is normal. 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. More than 30 mutations within the 40 exons of the MYH-9 gene leading to macrothrombocytopenia have been identified, of which the upstream mutations up to amino acid ∼1400 are more likely associated with syndromic manifestations than the downstream mutations. Diagnosis is based on identification of the granulocyte inclusion bodies using blood smears and immunofluorescence and is finally confirmed by identifying the mutation. Treatment is supportive and should be aimed to prevent iron deficiency anemia. Beside renal failure, the biggest risk for patients affected by a MYH-9 disorder are the adverse effects resulting form treatment based on the misdiagnosis of immune thrombocytopenia.


  

Author Contacts

Prof. Dr. Andreas Greinacher, Institut für Immunologie und Transfusionsmedizin, Ernst-Moritz-Arndt-Universität Greifswald, Sauerbruchstraße, 17489 Greifswald, Germany, Tel. +49 3834 8654-82, Fax -89, greinach@uni-greifswald.de

  

Article Information

Received: June 2, 2010
Accepted: August 19, 2010
Published online: September 15, 2010
Number of Print Pages : 8

  

Publication Details

Transfusion Medicine and Hemotherapy

Vol. 37, No. 5, Year 2010 (Cover Date: October 2010)

Journal Editor: Sibrowski W. (Münster)
ISSN: 1660-3796 (Print), eISSN: 1660-3818 (Online)

For additional information: http://www.karger.com/TMH


Article / Publication Details

First-Page Preview
Abstract of Review Article · Übersichtsarbeit

Received: 6/2/2010
Accepted: 8/19/2010
Published online: 9/15/2010

Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 0

ISSN: 1660-3796 (Print)
eISSN: 1660-3818 (Online)

For additional information: http://www.karger.com/TMH


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