Annals of Hematology

, Volume 94, Issue 9, pp 1599–1600 | Cite as

A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia

  • Jun YamanouchiEmail author
  • Takaaki Hato
  • Shinji Kunishima
  • Toshiyuki Niiya
  • Hisashi Nakamura
  • Masaki Yasukawa
Letter to the Editor

Dear Editor,

MYH9 disorders are characterized by macrothrombocytopenia, leukocyte inclusion bodies, and Alport manifestations including nephropathy, deafness, and cataract, all of which derive from mutations of the MYH9 gene encoding nonmuscle myosin heavy chain IIA (NMMHC-IIA) [1]. The severity of Alport manifestations observed in patients with MYH9 disorders generally depends on mutation sites of MYH9 gene and such a genotype-phenotype relationship has been constructed and extended by a series of case reports [2, 3]. We report here a patient with MYH9 disorders carrying a novel MYH9 mutation. In addition, we report the platelet size-specific effect of romiplostim on macrothrombocytopenia during the treatment for neurosurgery with romiplostim.

A 42-year-old female had long-standing purpura and thrombocytopenia. There were many giant platelets in her peripheral blood, and the platelet count, as determined by phase contrast microscopy, was 25 × 10 9/L, indicating macrothrombocytopenia....


Cataract Myosin Heavy Chain Coiled Coil Romiplostim Myosin Filament 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Jun Yamanouchi
    • 1
    Email author
  • Takaaki Hato
    • 1
    • 2
  • Shinji Kunishima
    • 3
  • Toshiyuki Niiya
    • 4
  • Hisashi Nakamura
    • 5
  • Masaki Yasukawa
    • 1
  1. 1.Department of Hematology, Clinical Immunology and Infectious DiseasesEhime University Graduate School of MedicineToonJapan
  2. 2.Division of Blood Transfusion and Cell TherapyEhime University Graduate School of MedicineToonJapan
  3. 3.Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical CenterNational Hospital OrganizationNagoyaJapan
  4. 4.Division of Laboratory MedicineEhime University Graduate School of MedicineToonJapan
  5. 5.Department of NeurosurgeryJuzen General HospitalNiihamaJapan

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