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MYH9 disorder: diagnosis using immunofluorescence and genetic testing in Thai children and adolescents with macrothrombocytopenia
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  • RUNGROTE NATESIRINILKUL,
  • Darintr Sosothikul,
  • Patcharee Komwilaisak,
  • Bunchoo Pongtanakul,
  • Nattee Narkbunnam,
  • Najwa Yudhasompop ,
  • Pimsiri Mekjaruskul,
  • Pimjai Niparuck,
  • Kochawan Boonyawat,
  • Shinji Kunishima,
  • Nongnuch Sirachainan
RUNGROTE NATESIRINILKUL
Chiang Mai University Faculty of Medicine
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Darintr Sosothikul
Chulalongkorn University
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Patcharee Komwilaisak
Khon Kaen University
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Bunchoo Pongtanakul
Mahidol University Faculty of Medicine Siriraj Hospital Department of Pediatrics
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Nattee Narkbunnam
Mahidol University Faculty of Medicine Siriraj Hospital Department of Pediatrics
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Najwa Yudhasompop
Hatyai Hospital
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Pimsiri Mekjaruskul
Maharat Nakhon Ratchasima Hospital
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Pimjai Niparuck
Mahidol University Faculty of Medicine Ramathibodi Hospital
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Kochawan Boonyawat
Mahidol University Faculty of Medicine Ramathibodi Hospital
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Shinji Kunishima
Gifu University
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Nongnuch Sirachainan
Mahidol University Faculty of Medicine Ramathibodi Hospital
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Abstract

MYH9 disorder is characterized by macrothrombocytopenia with or without granulocyte DÖhle body-like inclusion bodies. Diagnosis is made by immunofluorescence analysis and genetic study of the MYH9 gene. Our collaborative study between Thailand and Japan began with 67 Thai patients with macrothrombocytopenia. Of these, 11 patients(16.4%), aged 4 months-22 years with platelet counts ranging from 2,000-99,000/uL were diagnosed with MYH9 disorder. MYH9 gene mutations occurred in exons 1,16,30,38,40. One novel mutation was identified (c.4338T>C, p.F1446A). The results indicate that patients with macrothrombocytopenia should be tested for MYH9 disorder in order to avoid misdiagnosis to the other diseases, such as chronic immune thrombocytopenia.