Elevated thrombopoietin levels and alterations in the sequence of its receptor, c-Mpl, in patients with Diamond-Blackfan anemia

In the study of the possible thrombopoietin (TPO)-c-Mpl pathway involvement in the pathogenesis of Diamond-Blackfan anemia, repeatedly increased serum TPO levels were identified in 7/14 patients and changes in c-mpl sequence in 3/14 patients. While elevated TPO levels can represent a compensatory me...

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Bibliographic Details
Published in:Haematologica (Roma) 2004-11, Vol.89 (11), p.1391-1392
Main Authors: Pospisilova, D, Cmejlova, J, Slavik, L, Cmejla, R
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia, Diamond-Blackfan - blood
Child
Child, Preschool
Female
Humans
Male
Mutation
Proto-Oncogene Proteins - blood
Proto-Oncogene Proteins - genetics
Receptors, Cytokine - blood
Receptors, Cytokine - genetics
Receptors, Thrombopoietin
Thrombopoietin - blood
Thrombopoietin - genetics
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Summary:In the study of the possible thrombopoietin (TPO)-c-Mpl pathway involvement in the pathogenesis of Diamond-Blackfan anemia, repeatedly increased serum TPO levels were identified in 7/14 patients and changes in c-mpl sequence in 3/14 patients. While elevated TPO levels can represent a compensatory mechanism for impaired erythropoiesis, c-Mpl mutations could influence the disease severity.
ISSN:0390-6078
1592-8721