• Pernicious Anemia Overview

    Pernicious anemia is a decrease in red blood cells that occurs when the intestines cannot properly absorb vitamin B12, which the body needs to make red blood cell and to keep the nervous system working properly. A special protein made in the stomach, called intrinsic factor, is required for the intestines to absorb vitamin B12. When the stomach doesn’t make enough intrinsic factor, the intestines cannot absorb B12 properly.

    Pernicious Anemia Treatment at Dana-Farber/Boston Children's

    Patients with pernicious anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through the Blood Disorders Center. Continue reading to learn more about pernicious anemia or visit the Blood Disorders Center homepage to learn about our expertise and approach to treating this condition.

    Symptoms & Diagnosis

    Common causes of pernicious anemia include a weakened stomach lining, called atrophic gastritis, or an autoimmune condition in which the body’s immune system attacks intrinsic factor or the stomach cells that make it.  In rare cases, children are born with an inherited disorder (congenital pernicious anemia) that prevents their body from producing intrinsic factor or the receptor in the intestines.

    Some children with pernicious anemia do not have symptoms, or they may be mild. Common symptoms of the condition include:

    • Fatigue or lack of energy
    • Lightheadedness upon standing or exertion
    • Pale skin
    • Difficulty concentrating
    • Shortness of breath (primarily during exercise)
    • Swollen, red tongue
    • Bleeding gums
    • Loss of appetite
    • Diarrhea or constipation

    Long-term deficiency of vitamin B12 can cause nervous system damage, including confusion, loss of balance, or numbness or tingling or the hands or feet.

    Pernicious anemia is diagnosed through a physical exam and, possibly, other tests, including:

    • Complete blood count
    • Reticulocyte count, which measures how fast premature red blood cells, called reticulocytes, are made by bone marrow and released into blood
    • Blood tests to measure of vitamin B12 , methylmalonic acid (MMA) or homocysteine levels
    • Blood tests to detect the antibodies toward intrinsic factor or the cells that produce it
    • Schilling test to determine if the body is absorbing vitamin B12 normally

    A bone marrow exam may be necessary if the diagnosis is unclear. After all tests are completed, doctors will be able to outline the best treatment options.

    Treatment & Care Options

    Early detection and treatment of pernicious anemia can reduce the risk of complications. Treatments include shots of vitamin B12 once a month (or more shots per month if your child has severely low levels of vitamin B12), vitamin B12 supplements by mouth, or a combination of the two.

    Long-term Outlook

    Children with pernicious anemia typically do well with treatment. It’s important to start treatment early, as nerve damage can become permanent if treatment does not begin within six months of the onset of symptoms. With ongoing care and proper treatment, most children with the condition recover, feel well, and live normal lives.
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