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J Pediatr Hematol Oncol. 2004 Sep;26(9):579-83.

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.

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  • 1Department of Pediatric Oncology, Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan. myoshinari@idac.tohoku.ac.jp


The identification of a mutation in the MYH9 gene in hereditary macrothrombocytopenia has established a distinct entity proposed as "MYH9 disorders," which previously have often been misdiagnosed as chronic immune thrombocytopenic purpura. The authors describe clinical and laboratory characterization of a family with the disorder demonstrating giant platelets, thrombocytopenia, and leukocyte inclusion bodies. The authors emphasize the efficacy of a unique immunofluorescence method for the nonmuscle myosin heavy chain A in the diagnosis, because it is more sensitive than May-Gr├╝nwald-Giemsa staining and more practical than electron microscopy or direct sequencing. MYH9 disorders may be much more common than previously realized if accurately diagnosed.

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