Primary Polycythemia

Polycythemia is a condition that occurs when the bone marrow produces an abnormal and excessive amount of red blood cells and platelets in the blood. The abnormal increase of red blood cells in the blood can cause the blood to thicken and clot. There are several forms of polycythemia—primary polycythemia, secondary polycythemia, and stress polycythemia. Each form has its own set of causes and risk factors.

  • Causes

    Nearly all cases of primary polycythemia are believed to be caused by a mutation in the janus kinase 2 gene (JAK2).

  • Definition

    Polycythemia is a condition that occurs when the bone marrow produces an abnormal and excessive amount of red blood cells and platelets in the blood. The abnormal increase of red blood cells in the blood can cause the blood to thicken and clot.

    There are several forms of polycythemia—primary polycythemia, secondary polycythemia, and stress polycythemia. Each form has its own set of causes and risk factors.

    Location of Active Bone Marrow in an Adult
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  • Diagnosis

    Your physician will ask about your symptoms and medical history. A physical exam will be done. You may also be referred to a doctor called a hematologist who specializes in blood diseases and disorders. The hematologist will perform a tests.

    Your bodily fluids may be tested. This can be done with:

    • Blood tests
    • Bone marrow biopsy

  • Prevention

    There are no known preventative measures that will reduce your chances of getting primary polycythemia; the condition is not contagious.

    There is no cure, but recent research suggests that individuals who have primary polycythemia may significantly increase their overall life expectancy by seeking treatment right away.

  • Risk Factors

    Factors that may increase your chances of developing primary polycythemia include:

    • Sex: male—twice as likely to be affected as women
    • Age: over the age of 40 years old; rarely are individuals under the age of 40 diagnosed with primary polycythemia
    • Race: Caucasians, Ashkenazi Jews

  • Symptoms

    The symptoms of primary polycythemia occur gradually and vary from person to person. Some people show no signs of the condition. Symptoms may include:


    • Abnormal and heavy bleeding due to a cut or a
      nosebleed
    • Intense and frequent bone pain and/or muscle pain
    • Headaches, lightheadedness, or gastrointestinal symptoms
    • Vision problems
    • Ringing in the ears
    • Difficulty or labored breathing
    • The color of the skin appears reddish
    • Fatigue
    • Inability to concentrate
    • Intense itching after a warm or hot bath, shower, or any activity that requires soaking your skin in warm or hot water

  • Treatment

    Talk with your doctor about the best treatment plan for you. Treatment options include the following: