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A case of familial thrombocytosis: Possible role of altered thrombopoietin production
Author(s) -
Fujiwara Tohru,
Harigae Hideo,
Kameoka Junichi,
Yokoyama Hisayuki,
Takahashi Shinichiro,
Tomiya Yasuo,
Yamada Minami,
Ishizawa Kenichi,
Imaizumi Masue,
Sasaki Takeshi
Publication year - 2004
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20105
Subject(s) - thrombocytosis , thrombopoietin , pathogenesis , platelet , thrombopoietin receptor , pedigree chart , gene , medicine , immunology , endocrinology , biology , genetics , haematopoiesis , stem cell
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. Am. J. Hematol. 76:395–397, 2004. © 2004 Wiley‐Liss, Inc.