Megaloblastic Anemia | Symptoms & Causes

What are the symptoms of megaloblastic anemia?

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

  • pale skin, lips and hands
  • decreased appetite
  • irritability
  • lack of energy or fatigue
  • diarrhea or constipation
  • difficulty walking (Vitamin B12 specific)
  • numbness or tingling in hands and feet (Vitamin B12 specific)
  • smooth and tender tongue
  • weak muscles (Vitamin B12 specific)
  • lightheadedness upon standing or exertion
  • difficulty concentrating
  • shortness of breath (primarily during exercise)
  • swollen, red tongue
  • bleeding gums

It is important to understand that some symptoms of megaloblastic anemia may resemble those of other more common medical problems or other blood disorders. Because some of these symptoms can also point to other conditions, and because anemia itself can be a symptom of another medical problem, it’s important to have your child evaluated by a qualified medical professional for an accurate diagnosis and prompt treatment.

What causes megaloblastic anemia?

Megaloblastic anemia most commonly results from an acquired nutritional deficiency or inability to absorb nutrients. Common causes include:

  • dietary deficiency of folic acid
  • dietary deficiency of vitamin B12
  • certain diseases of the lower digestive tract, including celiac disease
  • atrophic gastritis.
  • an autoimmune attack on the stomach cells that produce the binding partner of Vitamin B12 that allows it to be absorbed further down the intestine
  • medication-induced folic acid deficiency

In rare cases, megaloblastic anemia is the result of inherited problems. These can include thiamine-responsive megaloblastic anemia syndrome (TRMA) — a rare inherited megaloblastic anemia characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus; congenital (inherited) vitamin B12 deficiency which can be the result of inherited deficiency of intrinsic factor or the receptor in the intestines (Imerslund-Grasbeck syndrome), or other vitamin B12 transporters (Transcobalamin deficiency); or inherited congenital folate malabsorption is a genetic problem in which infants cannot absorb folic acid in their intestines. This requires early intensive treatment to prevent long-term problems, including significant intellectual disabilities.