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

研究成果: Article査読

17 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)395-397
ページ数3
ジャーナルAmerican Journal of Hematology
76
4
DOI
出版ステータスPublished - 2004 8

ASJC Scopus subject areas

  • 血液学

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