A case of familial thrombocytosis: possible role of altered thrombopoietin production.
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.
Fujiwara
Tohru
T
Department of Rheumatology and Hematology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Harigae
Hideo
H
Kameoka
Junichi
J
Yokoyama
Hisayuki
H
Takahashi
Shinichiro
S
Tomiya
Yasuo
Y
Yamada
Minami
M
Ishizawa
Kenichi
K
Imaizumi
Masue
M
Sasaki
Takeshi
T
D000328:Adult; D001792:Blood Platelets / Q000378:metabolism; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology* / Q000378:metabolism; D017434:Protein Structure, Tertiary; D013922:Thrombocytosis / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D013926:Thrombopoietin / Q000096:biosynthesis* / Q000097:blood
D018076:DNA, Complementary; D013926:Thrombopoietin