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The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non‐familial essential thrombocythaemia
Author(s) -
Harrison Claire N.,
Gale Rosemary E.,
Wiestner Adrian C.,
Skoda Radek C.,
Linch David C.
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1998.00921.x
Subject(s) - thrombopoietin , thrombocytosis , pathogenesis , mutation , haematopoiesis , medicine , immunology , myeloid , intron , gene , disease , genetics , biology , cancer research , platelet , stem cell
Essential thrombocythaemia (ET) is a condition of unknown aetiology characterized by sustained thrombocytosis in the absence of a detectable systemic cause. Although usually considered a clonal disease affecting myeloid cells, recent data indicate that a significant proportion of patients have polyclonal haemopoiesis. In some patients the thrombopoietin (TPO) levels are normal or raised. Recently a mutation has been described in the TPO gene in familial thrombocythaemia that results in elevated TPO levels. We have therefore screened 51 patients diagnosed with non‐familial ET for the presence of this mutation, but it was not detected in any patient. The constitutional presence of this mutation is therefore unlikely to contribute to the pathogenesis of ET.