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

Haematologica. 2004 Nov;89(11):1391-2.

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.

Publication types

  • Letter

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