Abstract
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.
MeSH terms
-
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*
Substances
-
Proto-Oncogene Proteins
-
Receptors, Cytokine
-
Receptors, Thrombopoietin
-
MPL protein, human
-
Thrombopoietin