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. In fact, in many cases, polycythemia vera is discovered through blood tests performed for other reasons. 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.
  • Lower than normal levels of oxygen in your blood.
  • Very low levels of erythropoietin (EPO), a hormone that stimulates bone marrow to produce new red blood cells; the excess red blood cells turn off the production of EPO by your kidneys.

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. To help you visualize this, think of your bone marrow as a moist sponge. Aspiration takes the liquid from the sponge. The biopsy takes a piece of the sponge.

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. If you have polycythemia vera, analysis of your bone marrow or blood also may show the DNA change (JAK2 V617F mutation) that's associated with the disease.

References
  1. Diseases and conditions index: What is polycythemia vera. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/poly/poly_whatis.html. Accessed Jan. 21, 2009.
  2. Tefferi A, et al. Prognosis and treatment of polycythemia vera. http://www.uptodate.com/home/index.html. Accessed Feb. 5, 2009.
  3. Sirhan S, et al. Management of polycythemia vera. In: Silver RT. Myeloproliferative Disorders: Biology and Management. New York, N.Y.: Informa Healthcare; 2008:87.
  4. Polycythemia vera. The Merck Manuals Online Medical Library: The Merck Manual for Healthcare Professionals. www.merck.com/mmpe/sec11/ch141/ch141d.html#sec11-ch141-ch141d-694. Accessed Feb. 5, 2009.
  5. P-32. National Cancer Institute. http://www.cancer.gov/templates/db_alpha.aspx?CdrID=44869. Accessed Feb. 14, 2009.

DS00919

April 2, 2009

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