@article{9cd97bff479145c88de65f79189b45a8,
title = "A case of familial thrombocytosis: Possible role of altered thrombopoietin production",
abstract = "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.",
keywords = "Familial thrombocytosis, Thrombopoietin, c-MPL",
author = "Tohru Fujiwara and Hideo Harigae and Junichi Kameoka and Hisayuki Yokoyama and Shinichiro Takahashi and Yasuo Tomiya and Minami Yamada and Kenichi Ishizawa and Masue Imaizumi and Takeshi Sasaki",
note = "Funding Information: We thank Dr. 1. Moreno and Dr. F. Vives for providing sampling equipment. This study was funded by 'EC' and 'Consejo Superior de Investigaciones Cientificas' (Spanish Government) in the framework of the projects: {"}Biology and Fishery of dolphin-fish in the western Mediterranean and Canary island area{"} Project n094/031, and {"}Dolphin-fish biological and fishing data in the western Mediterranean{"} Project n095/73. We express our gratitude to J.K. Pinnegar for the comments and for improving the English version.",
year = "2004",
month = aug,
doi = "10.1002/ajh.20105",
language = "English",
volume = "76",
pages = "395--397",
journal = "American Journal of Hematology",
issn = "0361-8609",
publisher = "Wiley-Liss Inc.",
number = "4",
}