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Hereditary Erythrocytosis

Applying an algorithmic and reflexive approach to diagnosis



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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