Polycythemia vera

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Tests and diagnosis

By Mayo Clinic staff

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Illustration showing a needle suctioning out liquid bone marrow from the hipbone 
Bone marrow biopsy

Blood tests
Doctors most frequently use blood tests to diagnose polycythemia vera. If you have polycythemia vera, blood tests may reveal:

  • An increase in the number of red blood cells and, in some cases, an increase in platelets or white blood cells.
  • Elevated hematocrit measurement, the percentage of red blood cells that make up total blood volume.
  • Elevated levels of hemoglobin, the iron-rich protein in red blood cells that carries oxygen.
  • Very low levels of erythropoietin (EPO), a hormone that stimulates bone marrow to produce new red blood cells.

Bone marrow aspiration or biopsy
If your doctor suspects you have polycythemia vera, he or she may recommend a bone marrow aspiration or biopsy to collect a sample of your bone marrow. A bone marrow biopsy involves taking a sample of solid bone marrow material. A bone marrow aspiration is usually done at the same time as a biopsy. During an aspiration, your doctor withdraws a sample of the liquid portion of your marrow.

If an examination of your bone marrow shows that it's producing higher than normal numbers of blood cells, it may be a sign of polycythemia vera.

Tests for the gene mutation that causes polycythemia vera
If you have polycythemia vera, analysis of your bone marrow or blood also may show the mutation in the cells (JAK2 V617F mutation) that's associated with the disease.

References
  1. Hoffman R, et al. The polycythemias. In: Hoffman R, et al. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa.: Churchill Livingstone Elsevier; 2009. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-0-443-06715-0..X5001-8--TOP&isbn=978-0-443-06715-0&uniqId=230100505-56. Accessed March 1, 2011.
  2. Polycythemia vera. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/poly/poly_whatis.html. Accessed March 1, 2011.
DS00919 April 2, 2011

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