A case of familial thrombocytosis: Possible role of altered thrombopoietin production

Tohru Fujiwara, Hideo Harigae, Junichi Kameoka, Hisayuki Yokoyama, Shinichiro Takahashi, Yasuo Tomiya, Minami Yamada, Kenichi Ishizawa, Masue Imaizumi, Takeshi Sasaki

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


Familial thrombocytosis (FT) is an inherited disorder with clinical presentations similar to essential thrombocytosis (ET). In several pedigrees, overproduction of thrombopoietin (TPO) has been shown to be responsible for the disease. We report herein three cases of thrombocytosis in three successive generations. All cases had increased serum TPO levels. Sequence analysis of TPO gene and transmembrane domain of c-MPL, known as the TPO receptor, revealed no mutations. Platelet c-MPL expression was similar or slightly increased as compared to normal volunteers. These data suggest that altered regulation of the TPO gene might be involved in the pathogenesis of FT.

Original languageEnglish
Pages (from-to)395-397
Number of pages3
JournalAmerican Journal of Hematology
Issue number4
Publication statusPublished - 2004 Aug


  • Familial thrombocytosis
  • Thrombopoietin
  • c-MPL


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