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.
Department of Rheumatology and Hematology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Tohru
T
Fujiwara
Hideo
H
Harigae
Junichi
J
Kameoka
Hisayuki
H
Yokoyama
Shinichiro
S
Takahashi
Yasuo
Y
Tomiya
Minami
M
Yamada
Kenichi
K
Ishizawa
Masue
M
Imaizumi
Takeshi
T
Sasaki
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