Thalassemia - Symptoms

Symptoms

Mild thalassemia usually does not cause any symptoms.

People who have more severe forms of the condition may develop symptoms of anemia, which may include:

• Weakness.
• Fatigue.
• Lightheadedness.
• Skin that looks paler than normal.
• Jaundice (skin and whites of the eyes appear yellow).
• Dark urine.
• Decreased appetite and weight loss (poor growth in a child).
• A rapid heartbeat.
• Shortness of breath during exercise.

Less common symptoms of severe thalassemia include:

• Headache.
• Belly pain.
• Ringing in the ears.
• Chest pain.
• A slight fever.
• A sore, smooth tongue.

Children with a more severe form of thalassemia (beta thalassemia major, or Cooley's anemia) usually develop symptoms of anemia within the first few months of life. Paler skin is often the first sign of the disease.² Infants may grow slowly (failure to thrive). Other symptoms may include feeding problems, frequent fevers, and diarrhea. Without early treatment, a child may die or develop severe problems, such as:³

• A deformed face caused by the bone marrow expanding in the bones. This may cause a bulging forehead (frontal bossing).
• An enlarged liver and spleen.
• Brittle, weak bones (most often the long bones in legs and arms and the bones of the spine).

Related problems of severe thalassemia may include:

• Severe bacterial infections. An annual flu shot and the pneumonia vaccine may protect you from severe infections, which can make anemia worse in people with thalassemia.
• Organ damage. Many blood transfusions over time can lead to higher levels of iron stored in the body. The body stores this excess iron in the liver, heart, and other organs. In time, too much iron in these organs (iron overload) may cause damage. To reduce the amount of iron in your body, your doctor may treat you with chelating therapy. Or you may get medicine that binds to the iron in your body and removes it through your urine or stool. You may take this medicine as pill or have it pumped under your skin through a thin tube.