• Diamond-Blackfan Anemia Overview

    Diamond-Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body. DBA is a potentially life-threatening condition that can cause severe anemia and other abnormalities.

    Diamond-Blackfan Anemia Treatment at Dana-Farber/Boston Children's

    Children with DBA are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Continue reading to learn more about Diamond Blackfan anemia or visit the Bone Marrow Failure Program homepage to learn about our expertise and treatment options for this condition.

    Symptoms & Diagnosis

    DBA is a genetic disease that affects the body’s ribosomes, which are small cellular structures that play an important role in building proteins in the body. Mutations in ribosomal protein genes account for 50 to 70 percent of DBA cases. In rare cases, DBA in boys is due to a mutation in the GATA-1 gene, which regulates the earliest steps in red blood cell production.

    Most children experience symptoms very early in life. As a result, DBA is usually diagnosed before a child’s first birthday. The most common symptoms are:

    • Pale skin
    • Decreased energy or tiredness (fatigue)
    • Difficulty breathing (dyspnea)
    • Tiring during feeding in infants

    About 40 percent of children with DBA also have one or more of the following physical characteristics:

    • Short stature
    • Head, face and neck abnormalities
    • Thumb defects
    • Kidney or heart defects

    To diagnose DBA, a child’s physician may order some or all of the following tests:

    • Blood tests – including a complete blood count with reticulocytes (in DBA, this test shows an abnormally low number of red blood cells, but normal numbers of white cells and platelets)
    • Bone marrow aspiration and biopsy
    • Additional blood tests and genetic tests to rule out inherited types of anemia and other disorders, such as myelodysplastic syndrome 

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

    Treatment & Care Options

    Treatment of DBA may include:

    • Steroid therapy – to increase hemoglobin or red blood cells
    • Blood transfusion – used when anemia is unusually severe or when steroid therapy is not effective
    • Stem cell transplant – the only cure for DBA at this time

    Children who receive transfusions may eventually develop iron overload and need to take additional medications (iron chelation therapy) in order to remove excess iron from the blood and undergo tests to monitor for heart and liver damage.

    Long-term Outlook

    Children with DBA require lifelong follow-up care to manage symptoms, give therapies such as blood transfusions, or monitor a child’s health following a stem cell transplant. Severe cases of DBA require lifelong treatment for potentially life-threatening anemia and other complications. New methods are continually being discovered to improve treatment and decrease side effects of therapies.
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  • Treating Blood Disorders

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