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Polycythemia vera (PV) is diagnosed through a series of tests that examine the blood and bone marrow. The process usually begins with a physical examination where the doctor checks for physical signs of PV such as an enlarged spleen, red skin on your face and bleeding from your gums. If PV is suspected, the following tests may be conducted:

Blood Tests:

  • Complete blood count (CBC): This test measures the number of red blood cells, white blood cells, and platelets in a sample of blood. In polycythemia vera, the red blood cell count is typically higher than normal. People who have PV also may have high white blood cell and/or platelet counts. The CBC also checks your hemoglobin and hematocrit levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A high level of hemoglobin or hematocrit may be a sign of PV.
  • Erythropoietin level (EPO): Erythropoietin is a hormone that stimulates the production of red blood cells. In PV, the level of this hormone is usually much lower than normal.
  • Genetic testing: Most people with PV have a mutation in the JAK2 gene. This test can confirm the presence of this mutation and can be completed using a blood or bone marrow sample.

Bone Marrow Tests:

  • Bone marrow aspiration and biopsy: These tests involve removing a small amount of bone marrow tissue, usually from the hip bone, for examination under a microscope. The results can show whether the bone marrow is producing too many red blood cells.

Imaging Tests:

  • Ultrasound: An ultrasound of the spleen can help determine if it's enlarged, which is common in people with PV. 

A Summary of Diagnosing Polycythemia Vera

Diagnosing PV involves a comprehensive evaluation that includes a physical examination, patient history, and a series of tests. Blood tests are used to measure the number of blood cells and check for the JAK2 mutation. Bone marrow tests can confirm the overproduction of red blood cells. Imaging tests can reveal an enlarged spleen, another common sign of the condition. Together, these tests provide a clear picture of the patient's condition and help guide treatment decisions.

If you don't currently have a PV specialist on your team, it is important that you consult with one. Use HealthTree's PV Specialist Directory to locate a specialist near you. 

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