Thalassemia | Symptoms & Causes

What are the symptoms of thalassemia?

Symptoms of thalassemia depend on the clinical severity of the disease and the therapies employed to treat it. Each child may experience symptoms differently. Patients with thalassemia trait generally do not experience any symptoms.

Transfusion dependent thalassemia

The primary signs and symptoms of Cooley’s anemia in infancy, before diagnosis, are those of severe anemia. Later in childhood and adulthood, transfusion dependent thalassemia symptoms are generally the result of iron overload, a byproduct of the frequent blood transfusions patients with this form of thalassemia require.

Patients with transfusion dependent thalassemia do not typically experience severe anemia once they have started receiving regular transfusion. Without these transfusions, however, they can develop life-threatening anemia.

Symptoms of iron overload may include:

  • chronic fatigue
  • liver disease
  • abdominal pain
  • heart problems
  • joint pain

Non-transfusion dependent thalassemia

The most common symptoms of non-transfusion dependent thalassemia are related to anemia:

  • pale skin, lips, hands or under the eyelids
  • increased heart rate (tachycardia)
  • breathlessness, or difficulty catching a breath (dyspnea)
  • lack of energy, or tiring easily (fatigue)
  • dizziness or vertigo, especially upon standing
  • headache
  • irritability
  • irregular menstruation cycles
  • absent or delayed menstruation (amenorrhea)
  • slow or delayed growth and development
  • bony overgrowth or deformities
  • an increased risk of bone fractures

What causes thalassemia?

Thalassemia is caused by an abnormality or mutation in the DNA of the cells involved in hemoglobin production. Children inherit this condition from their parents. When one parents is a carrier for thalassemia, a child may develop a form of the condition called thalassemia minor. When both parents are carriers of thalassemia, there is a greater chance their child or children will inherit a more serious form of the condition.