Regulation of erythropoietin production in a case of congenital erythropoietin-dependent pure erythrocytosis

Am J Hematol. 1994 Aug;46(4):348-53. doi: 10.1002/ajh.2830460417.

Abstract

In a patient with congenital erythropoietin-dependent pure erythrocytosis (EDPE) associated with hypersensitivity of erythroid progenitor cells to erythropoietin (Epo), the investigations planned to elucidate the mechanism responsible for hormone hyperproduction revealed that Epo synthesis was (1) independent of normal oxygen-mediated feedback induced by phlebotomy; (2) not modulated by adenosine as a second messenger (the treatment with the adenosine antagonist theophylline in fact left unchanged the serum Epo levels); and (3) uninfluenced by iron therapy. The Epo dose-response curve for growth of erythroid progenitor was similar to that of three age-matched thalassemia patients with increased serum Epo levels, (sEpo) suggesting that the observed erythroid progenitors hypersensitivity to Epo could represent an ex vivo artifact induced by the increased sEpo levels.

Publication types

  • Case Reports

MeSH terms

  • Bloodletting
  • Cells, Cultured
  • Erythroid Precursor Cells / drug effects
  • Erythroid Precursor Cells / pathology
  • Erythropoietin / biosynthesis*
  • Erythropoietin / therapeutic use
  • Humans
  • Infant
  • Iron / therapeutic use
  • Male
  • Polycythemia / congenital*
  • Polycythemia / metabolism*
  • Polycythemia / therapy
  • Recombinant Proteins
  • Theophylline / therapeutic use

Substances

  • Recombinant Proteins
  • Erythropoietin
  • Theophylline
  • Iron