• Pediatric Thalassemia

    Thalassemia is an inherited blood disorder that causes the body to produce less hemoglobin, the protein in red blood cells that helps them carry oxygen from the lungs to the rest of the body, causing anemia that can range from mild to life-threatening.

    Some forms of thalassemia require lifelong follow-up care and regular blood transfusions. Other forms are more manageable and require little or no treatment. At the mildest end, thalassemia “minor,” also called thalassemia trait, isn’t a disease at all.

    Thalassemia Treatment at Dana-Farber/Boston Children's

    Children and young adults with thalassemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Thalassemia Program. Continue reading to learn more about thalassemia or visit the Thalassemia Program homepage to learn about our expertise and treatment options for this condition.

    Symptoms & Diagnosis

    The primary symptoms of thalassemia are a result of anemia, a decreased number of healthy red blood cells. The following are the most common symptoms:

    • Pale skin, lips and hands
    • Paleness under the eyelids
    • Breathlessness, or difficulty catching a breath (dyspnea)
    • Lack of energy or tiring easily (fatigue)
    • Dizziness or vertigo, especially upon standing
    • Headache
    • Irritability
    • Irregular menstrual cycles
    • Absent or delayed menstruation (amenorrhea)
    • Jaundice, or yellowing of the skin, eyes and mouth
    • Enlarged spleen or liver (splenomegaly, hepatomegaly)
    • Slow or delayed growth and development

    Thalassemia intermedia causes less severe symptoms than thalassemia major, which causes the most severe anemia.

    Doctors diagnose thalassemia using blood tests, including:

    • Complete blood count
    • Special hemoglobin tests
    • Genetic tests to identify specific genetic defects that cause thalassemia

    After all tests are completed, doctors will be able to outline the best treatment options.

    Treatment & Care Options

    Treatment for thalassemia depends on the subtype of the disorder, but may include:

    • Blood transfusions 
    • Medications and supplements for anemia
    • Iron chelation – oral or intravenous medications that remove excess iron from the body from chronic blood transfusions

    To monitor iron levels in the body, children with severe thalassemia must undergo specialized imaging testing.

    Long-term Outlook

    In the past, patients with thalassemia major had a significantly reduced life expectancy. Today, however, thanks to blood transfusion therapy and effective iron chelators, the life expectancy for children with severe thalassemia is constantly improving. In general, those with thalassemia intermedia experience less severe symptoms and need regular medical follow-up, but may not require frequent transfusions.
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