Megaloblastic (pernicious) anemia

What is megaloblastic (pernicious) anemia?

Megaloblastic anemia, also called 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. Instead of being round or disc-shaped, the red blood cells can be oval.

What causes megaloblastic (pernicious) anemia?

There are many causes of megaloblastic anemia, but the most common source in children occurs from a vitamin deficiency of folic acid. Other sources of megaloblastic anemia include the following:

  • Digestive diseases - Certain diseases of the lower digestive tract can lead to megaloblastic anemia. These include celiac disease, chronic infectious enteritis and enteroenteric fistulas.
  • 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.
  • Folic acid deficiency - 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.

What are the symptoms of megaloblastic (pernicious) anemia?

The following are the most common symptoms of megaloblastic anemia. However, each child may experience symptoms differently. Symptoms may include:

  • Abnormal paleness or lack of color of the skin
  • Decreased appetite
  • Irritability
  • Lack of energy or tiring easily (fatigue)
  • Diarrhea
  • Difficulty walking
  • Numbness or tingling in hands and feet
  • Smooth and tender tongue
  • Weak muscles

The symptoms of megaloblastic anemia may resemble other blood conditions or medical problems. Always consult your child's physician for a diagnosis.

How is megaloblastic (pernicious) anemia diagnosed?

Megaloblastic anemia may be suspected from general findings from 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 from a problem in the digestive tract, a barium study of the digestive system may be performed.

Treatment for megaloblastic (pernicious) anemia

Specific treatment for megaloblastic anemia will be determined by your child's physician based on:

  • Your child's age, overall health and medical history
  • Extent of the anemia
  • Cause of anemia
  • Your child's tolerance for specific medications, procedures or therapies
  • Expectations for the course of the anemia
  • Your opinion or preference

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, this may need to be treated first.

Foods that are rich in folic acid and vitamin B12 include the following:

  • Meat and liver
  • Green, leafy vegetables
  • Citrus fruits
  • Berries
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