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 mechanism for impaired erythropoiesis, c-Mpl mutations could influence the disease severity.
Pospisilova
Dagmar
D
Cmejlova
Jana
J
Slavik
Ludek
L
Cmejla
Radek
R
D000293:Adolescent; D000328:Adult; D029503:Anemia, Diamond-Blackfan / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000097:blood* / Q000235:genetics*; D018121:Receptors, Cytokine / Q000097:blood* / Q000235:genetics*; D053628:Receptors, Thrombopoietin; D013926:Thrombopoietin / Q000097:blood* / Q000235:genetics*
D011518:Proto-Oncogene Proteins; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; D013926:Thrombopoietin