Advances in understanding the pathogenesis of primary familial and congenital polycythaemia

Lily J. Huang, Yu Min Shen, Gamze B. Bulut

Research output: Contribution to journalReview article

25 Scopus citations


Primary familial and congenital polycythemia (PFCP) is an autosomal-dominant proliferative disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to erythropoietin (Epo). Several lines of evidence suggest a causal role of truncated erythropoietin receptor (EpoR) in this disease. In this review, we discuss PFCP in the context of erythrocytosis and EpoR signalling. We focus on recent studies describing mechanisms underlying Epo-dependent EpoR down-regulation. One mechanism depends on internalization mediated through the p85 regulatory subunit of the Phosphoinositide 3-Kinase, and the other utilizes ubiquitin-based proteasomal degradation. Truncated PFCP EpoRs are not properly down-regulated upon stimulation, underscoring the importance of these mechanisms in the pathogenesis of PFCP.

Original languageEnglish (US)
Pages (from-to)844-852
Number of pages9
JournalBritish Journal of Haematology
Issue number6
StatePublished - Mar 2010



  • Endocytosis
  • Erythrocytosis
  • Erythropoietin receptor
  • Primary familial and congenital polycythemia
  • Receptor down-regulation

ASJC Scopus subject areas

  • Hematology

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