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Hereditary Erythrocytosis

Applying an algorithmic and reflexive approach to diagnosis



Updated: December 2014
Published: December 2012

Management and Diagnosis of Erythrocytosis

The testing options for general erythrocytosis greatly benefit from an algorithmic and reflexive approach for a cost-effective and efficient evaluation.

  • Most cases are due to polycythemia vera, and knowledge of the JAK2 V617F status is an optimal place to begin.
  • Additionally, the serum erythropoietin level allows stratification of JAK2 V617F negative cases.
  • If the serum erythropoietin level is normal or elevated, testing for oxygen dissociation, p50 helps further define the process and suggests the most likely potential etiologies and the best testing strategy.
  • When polycythemia vera and acquired causes of erythrocytosis are excluded and the p50 value is normal, an evaluation for hereditary erythrocytosis should be ordered.

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