JAK2V617F detection and dosage of serum erythropoietin: first steps of the diagnostic work-up for patients consulting for elevated hematocrit

Haematologica. 2007 Mar;92(3):431-2. doi: 10.3324/haematol.10660.

Abstract

The predictive values of common biological criteria for the diagnosis of polycythemia vera were studied in a cohort of patients with high hematocrit. We found JAK2V617F and erythropoietin assays were the most relevant first tests. Classification of patients according to their JAK2V617F status and erythropoietin levels facilitated the choice of further diagnostic investigations.

Publication types

  • Evaluation Study
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Cohort Studies
  • Diagnosis, Differential
  • Erythropoietin / blood*
  • Female
  • Gene Frequency
  • Hematocrit*
  • Humans
  • Janus Kinase 2 / blood
  • Janus Kinase 2 / genetics*
  • Male
  • Mutant Proteins / blood
  • Mutant Proteins / genetics*
  • Mutation, Missense*
  • Point Mutation*
  • Polycythemia / blood
  • Polycythemia / diagnosis
  • Polycythemia Vera / blood
  • Polycythemia Vera / diagnosis*
  • Polycythemia Vera / enzymology
  • Polycythemia Vera / genetics
  • Predictive Value of Tests

Substances

  • Mutant Proteins
  • Erythropoietin
  • JAK2 protein, human
  • Janus Kinase 2