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

被引：26

作者：

Fujiwara, T

Harigae, H

Kameoka, J

Yokoyama, H

Takahashi, S

Tomiya, Y

Yamada, M

Ishizawa, K

Imaizumi, M

Sasaki, T

机构：

[1] Tohoku Univ, Grad Sch Med, Dept Mol Diagnost, Aoba Ku, Sendai, Miyagi 9808574, Japan

[2] Tohoku Univ, Grad Sch Med, Dept Rheumatol & Hematol, Sendai, Miyagi 9808574, Japan

[3] Tohoku Univ, Grad Sch Med, Dept Pediat Hematol & Oncol, Sendai, Miyagi 9808574, Japan

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 2004年 / 76卷 / 04期

关键词：

thrombopoietin; c-MPL; familial thrombocytosis;

D O I：

10.1002/ajh.20105

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

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. (C) 2004 Wiley-Liss, Inc.

引用

页码：395 / 397

页数：3

共 12 条

[1]

A novel MPL point mutation resulting in thrombopoietin-independent activation [J].