Rungrote NatesirinilkulDarintr SosothikulPatcharee KomwilaisakBunchoo PongtanakulNattee NarkbunnumNajwa YudhasompopPimsiri MekjarusgoolPimjai NiparuckKochawan BoonyawatShinji KunishimaNongnuch SirachainanSomjai KanjanapongkulThirachit ChotsampancharoenChanchai TrivareeSiranee WongruangsriPacharapan SurapolchaiSumonmaln KlamchuenSaranya BusakornruangratKittima KanchanakamhaengNattaporntira PhalakornkulSiriraj HospitalGifu University of Medical ScienceLampang HospitalChulalongkorn UniversityHatyai HospitalBhumibol Adulyadej HospitalKhon Kaen UniversityFaculty of Medicine Ramathibodi Hospital, Mahidol UniversityMaharaj Nakhon Ratchasima HospitalThammasat UniversityQueen Sirikit National Institute of Child HealthPhramongkutklao College of MedicinePrince of Songkla UniversitySawanpracharak HospitalChiang Mai UniversitySunpasitthiprasong HospitalSomdej Prapinklao Hospital2022-08-042022-08-042021-07-01Pediatric Blood and Cancer. Vol.68, No.7 (2021)15455017154550092-s2.0-85115057948https://repository.li.mahidol.ac.th/handle/123456789/78048The diagnosis of MYH9 disorder is guided by recognizing granulocyte Döhle body-like inclusion bodies and large/giant platelets in the peripheral blood smear. Immunofluorescence study of nonmuscle myosin heavy chain IIA is a sensitive screening method for diagnosis of MYH9 disorder. The diagnosis can then be confirmed by genetic analysis. A total of 67 patients with macrothrombocytopenia were included, of which 11 patients (16%), aged 4 months to 22 years, were ultimately diagnosed with MYH9 disorder. One novel mutation in exon 30 at c.4338T>C (p.F1446A) was detected. This mutation was associated with nonhematologic manifestations presenting in late adolescence with cataracts, hearing loss, and hematuria.Mahidol UniversityMedicineArticleSCOPUS10.1002/pbc.29055