The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

Melanie J Percy, Linda M Scott, Wendy N Erber, Claire N Harrison, John T Reilly, Frank G C Jones, Anthony R Green, Mary Frances McMullin

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62 Citations (Scopus)

Abstract

Idiopathic erythrocytosis (IE) is characterized by erythrocytosis in the absence of megakaryocytic or granulocytic hyperplasia, and is associated with variable serum erythropoietin (Epo) levels. Most patients with IE lack the JAK2 V617F mutation that occurs in the majority of polycythemia vera patients. Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. The aims of this study were to assess the prevalence of JAK2 exon 12 mutations in IE patients, and to determine the associated clinicopathological features.
Original languageEnglish
Pages (from-to)1607-1614
Number of pages8
JournalHAEMATOLOGICA
Volume92
Issue number12
DOIs
Publication statusPublished - Dec 2007

Keywords

  • Alleles
  • Amino Acid Substitution
  • Bone Marrow
  • Cohort Studies
  • Erythroid Precursor Cells
  • Erythropoietin
  • Exons
  • Great Britain
  • Humans
  • Ireland
  • Janus Kinase 2
  • Polycythemia
  • Polycythemia Vera
  • Prevalence

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    Percy, M. J., Scott, L. M., Erber, W. N., Harrison, C. N., Reilly, J. T., Jones, F. G. C., Green, A. R., & McMullin, M. F. (2007). The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. HAEMATOLOGICA, 92(12), 1607-1614. https://doi.org/10.3324/haematol.11643