Thalassemia

What is thalassemia?

Thalassemia is blood disorder where the genes that make hemoglobin are broken. This can cause anemia, which can range in severity from mild to life threatening. There are several different types of thalassemia. Some require lifelong care and regular blood transfusions while other types may need little or no treatment.

Symptoms

The symptoms of thalassemia can vary, depending on the type. The most common symptoms are those of anemia, including:

  • pale skin, lips or hands
  • lack of energy
  • dizziness
  • increased heart rate
  • headache
  • breathlessness
  • irritability
  • irregular, delayed or absent menstruation

Diagnosis

Thalassemia is diagnosed with a blood test called a complete blood count (CBC). It measures the number of red blood cells and their concentration of hemoglobin. Your child’s doctor may also recommend genetic testing to find out what type of thalassemia your child has.

Treatment

Treatment for thalassemia depends on which type your child has, but may include:

  • blood transfusions for anemia
  • iron chelation therapy, to remove excess iron from the body
  • stem cell transplantation, to replace defective stem cells with healthy stem cells from a donor

Learn more about Pediatric Hematology, Oncology and Stem Cell Transplant services at Boston Children’s Health Physicians.

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