Hereditary Erythrocytosis

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.

Featured Algorithms

• Diagnostic Approach to Suspected Erythrocytosis

• Erythrocytosis Evaluation Testing Algorithm