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Megaloblastic Pernicious Anemia

  • Megaloblastic anemia, also known as pernicious anemia, is a type of anemia characterized by very large red blood cells.

    In addition to the cells being large, the inner contents of each cell are not completely developed; this malformation causes the bone marrow to produce fewer cells, and sometimes the cells die earlier than the 120-day life expectancy.

    Patients with Megaloblastic pernicious anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through the Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital.

    How Dana-Farber/Boston Children's approaches megaloblastic anemia

    The Clinical Nutrition Service (CNS) provides comprehensive nutrition consultation services for patients of all ages in both the inpatient and outpatient settings. Using innovative diagnostic and evaluation techniques, our staff develops appropriate nutrition plans for infants, children and adolescents who suffer from a variety of disorders.

  • What causes megaloblastic, or pernicious, anemia?

    In children, megaloblastic anemia most often occurs as result of a dietary deficiency of folic acid. Folic acid is a "B" vitamin required for the production of normal red blood cells. Folic acid is present in foods such as green vegetables, liver, and yeast. It is also produced synthetically and added to many food items. Other causes of megaloblastic anemia include the following:

    • Digestive diseases—Certain diseases of the lower digestive tract, including celiac disease, chronic infectious enteritis, and enteroenteric fistulas, can lead to megaloblastic anemia.

    • Malabsorption-Inherited congenital folate malabsorption, a genetic problem in which infants cannot absorb folic acid in their intestines, can lead to megaloblastic anemia. This requires early intensive treatment to prevent long-term problems, such as mental retardation.

    • Medication-induced folic acid deficiency—Certain medications, specifically ones that prevent seizures, such as phenytoin, primidone, and phenobarbital, can impair the absorption of folic acid. The deficiency can usually be treated with a dietary supplement.

    What are the symptoms of megaloblastic (pernicious) anemia?

    Each child may experience symptoms differently, but common symptoms include:

    • pale skin, lips and hands
    • decreased appetite
    • irritability
    • lack of energy or fatigue
    • diarrhea
    • difficulty walking
    • numbness or tingling in hands and feet
    • smooth and tender tongue
    • weak muscles
  • Your child's doctor may suspect megaloblastic anemia after taking a complete medical history and physical examination of your child. In addition, several blood tests can be performed to confirm the diagnosis.

    If the megaloblastic anemia is thought to be caused by a problem in the digestive tract, a barium study of the digestive system may be performed.

  • Patients with Megaloblastic pernicious anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through the Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital.

    Treatment usually involves your child taking an oral dietary folic acid supplement for at least two to three months. If the disorder is caused by an absorption problem in the digestive tract, that may need to be treated first.

    Your child's physician may also suggest eating foods that are rich in folic acid and vitamin B12 such the following:

    • meat and liver
    • green, leafy vegetables
    • citrus fruits
    • berries
  • Clinical Trials

    For many children with rare or hard-to-treat conditions, clinical trials provide new options. 
    Search our open clinical trials
    Get answers to common questions about clinical trials for cancer and blood disorders
    - Contact us: If you’re not sure which clinical trials might be right for your child, email us at clinicaltrials@danafarberbostonchildrens.org. We can help you navigate your options.
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