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Diamond Blackfan Anemia

  • Diamond Blackfan anemia (DBA) is a rare genetic 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. Normally, bone marrow produces all of the blood cells your child’s body needs, but sometimes, genetic defects can disrupt the marrow’s ability to make these vital cells.

    How Dana-Farber/Boston Children's approaches Diamond Blackfan anemia

    At the Bone Marrow Failure Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, our team of pediatric hematology experts provides comprehensive treatment for DBA. We are a national pediatric hematology/oncology referral center, with one of the nation’s most experienced, multidisciplinary teams at diagnosis and treatment of Diamond Blackfan anemia.

    • We offer specialized diagnostic and treatment options, including hematopoietic stem cell transplantation through our Pediatric Stem Cell Transplant Center, one of the nation’s oldest and most experienced pediatric stem cell transplant programs.
    • Our pediatric hematology experts provide your child with ongoing, comprehensive follow-up care to manage the symptoms of DBA.
    • Researchers at Dana-Farber/Boston Children’s are studying ribosomal protein genes and other genes of children with DBA to identify new genetic mutations related to the disorder.

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  • What is Diamond Blackfan anemia? 

    Diamond Blackfan anemia (DBA) is a pediatric 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.

    How serious is it?

    DBA is a potentially life-threatening condition that can cause severe anemia and other abnormalities. DBA requires ongoing medical care by experienced pediatric hematologists to help manage symptoms and keep your child as healthy as possible.

    Is Diamond Blackfan anemia common?

    Diamond Blackfan anemia is very rare, affecting only five to seven children per 1 million. It occurs equally in boys and girls and has been diagnosed in nearly all ethnic groups.


    What causes Diamond Blackfan anemia?

    Diamond Blackfan anemia (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. DBA has been linked to defects of at least 10 ribosomal protein genes. Mutations in one of these genes accounts for 50 to 70 percent of DBA cases. In rare cases, DBA in boys is due to mutation in GATA1, which belongs to a different class of genes that regulate the earliest steps in red cell production. Unidentified genes still account for the remaining cases.

    DBA is usually a dominantly inherited disorder, meaning that one copy of a defective gene is enough to cause the disease; the GATA1 mutation, for instance, is X-linked. In some cases, children inherit the defective gene from a parent. However, new, non-inherited gene mutations also can cause the disease in children with no family history of the disorder.


    What are the symptoms of Diamond Blackfan anemia?

    The symptoms of Diamond Blackfan anemia (DBA) can vary widely from child to child depending on the specific genetic mutation and other factors. Symptoms generally start by the time a baby is a few months old and almost always before the age of 1 year.

    The most common symptoms of DBA are:

    • pale skin
    • decreased energy or tiredness
    • difficulty breathing
    • 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

    The symptoms of DBA may resemble other blood disorders or medical problems; some are very common and easy to treat, while others can be more serious. The symptoms listed above are common presentations of the disease, but do not include all possible symptoms. It is important to be evaluated by a physician to obtain an accurate diagnosis. Always consult your child's physician if you have concerns.

  • Your child’s physician may order a number of different tests to make a diagnosis of Diamond Blackfan anemia (DBA). In addition to a complete medical history and physical examination, DBA can be diagnosed accurately by a full evaluation of your child’s blood and bone marrow.

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

    • blood tests—A complete blood count (CBC) with reticulocytes can help your child’s doctor to understand the cause of the anemia. In DBA, this test shows an abnormally low number of red blood cells, but normal numbers of white cells and platelets. A low reticulocyte count indicates that new red cells are not being made by the bone marrow and released into the blood.
    • bone marrow exam—Using a needle, samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn under local anesthesia. This allows your child’s doctor to look for marrow abnormalities. In DBA, your doctor will look for a lack of immature red blood cells in the bone marrow.
    • other tests—Additional blood tests and genetic testing may be ordered to rule out other inherited types of anemia and other disorders, such as myelodysplastic syndrome.

    Most children experience symptoms very early in life, and as a result, DBA is usually diagnosed before a child’s first birthday.

    After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then, we will meet with you and your family to discuss the results and outline the best treatment options.

  • Children with Diamond Blackfan anemia are treated through the Bone Marrow Failure Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. We provide advanced treatments and diagnosis, including stem cell (bone marrow) transplantation, DNA mutation identification through a certified laboratory, and ongoing clinical trials that are investigating new treatments.

    Your child’s physician will determine a specific course of treatment based on several factors, including:

    • your child's age, overall health and medical history
    • the severity of symptoms
    • your child's tolerance for specific medications, procedures or therapies
    • how your child's doctors expect the disease to progress
    • the availability of a suitable stem cell donor

    What are the treatments for Diamond Blackfan anemia?

    Treatment of Diamond Blackfan anemia (DBA) may include:

    Steroid therapy

    • increases hemoglobin or red blood cells
    • taken orally in liquid or pill form every day, every other day or sometimes once a week in divided doses
    • side effects may include: upset stomach, increased appetite, weight gain, unstable blood sugars, increased blood pressure, cataracts, decreased height and increased risk for infection
    • the majority of patients respond to steroid treatment, and the dose can often be weaned to a low dose that causes few side effects

    Red blood cell transfusion

    • used when anemia is unusually severe or when steroid therapy is not effective
    • red blood cells are delivered through a needle or catheter inserted into a vein
    • performed at the hospital or outpatient transfusion center
    • takes two to four hours and may be repeated every four to eight weeks
    • side effects may include: fever, headache, hives, allergic reaction, infection and iron overload

    Patients who receive transfusions eventually may develop iron overload and need to take additional medications (chelation therapy) to remove this iron from the blood and undergo testing to monitor for heart and liver damage.

    Stem cell transplant

    • A stem cell transplant is the only cure at this time.
    • The best results are achieved when the bone marrow comes from an unaffected tissue-compatible sibling. However, a matched sibling donor may not be available in many cases.
    • In some cases, a matched unrelated donor may be considered. However, the rate for successful transplant from unrelated donors is lower.
    • For more information, read about our pediatric Stem Cell Transplant Center, one of the largest and most experienced stem cell transplant programs in the world.

    Will my child with Diamond Blackfan anemia be OK?

    The symptoms of DBA and how well children recover varies significantly depending on the specific genetic mutation and other factors. Prompt medical attention and aggressive therapy are important.

    Your child will need lifelong follow-up care to manage symptoms, give therapies such as blood transfusions or monitor your child’s health following a stem cell transplant. Severe cases of DBA, which can result in life-threatening anemia, require lifelong treatment for anemia and other potential complications. New methods are continually being discovered to improve treatment and to decrease side effects of the treatment for the disease.

    Your child’s physician is available to answer questions about your child’s condition, prognosis and available treatment options.

    Resources & support

    In addition to providing medical care, we strive also to meet all of your family’s emotional and quality-of-life needs. Our family support services will help address many of your needs and concerns. Read about our resources and support services.

  • At Dana-Farber/Boston Children's Cancer and Blood Disorders Center, our care is informed by our research. We have a long history of research and innovation in pediatric blood disorders, including conducting the initial study that described Diamond Blackfan anemia (DBA).

    Research underway:

    • Our researchers are collecting samples of blood and bone marrow from patients with DBA and other bone marrow failure syndromes to pinpoint the specific proteins that are faulty in DBA and how these defects relate to the clinical outcomes of patients.
    • Hanna Gazda, MD, PhD, associate scientist in the Division of Genetics, is collaborating with the Diamond Blackfan Anemia Registry to learn more about the genetics and causes of DBA.
    • Colin Sieff, MB, BCh, senior associate in the Department of Medicine, is investigating the mechanism of anemia in DBA, as well as new approaches to treatment.
    • We are sequencing the ribosome genes of children with DBA in order to identify mutations related to the disorder.
    • Thus far, we have identified six additional genes that play a role in DBA.
    • In collaboration with the Broad Institute of Harvard and MIT, we are sequencing other genes in children with DBA and their families to discover additional mutations. This approach recently led to the identification of GATA1 mutations in a small number of patients.
    • Stuart Orkin, MD, and Leonard Zon, MD, are working to create iPS cells (induced pluripotent stem cells) from patients with DBA.
    • George Daley, MD, PhD, and Suneet Argawal, MD, PhD, are working to model bone marrow failure syndromes, such as DBA, using pluripotent stem cells.
    • Researchers in our program are working on new ways to possibly correct the defect associated with DBA and thus cure the disease.

    The Diamond Blackfan Anemia Registry of North America (DBAR) is a national registry that enrolls individual patients for the purpose of analyzing epidemiological and biological information. It was established in 1993 and continues enrolling DBA patients today.

    Clinical Trials

    For many children with rare or hard-to-treat conditions, clinical trials provide new options.

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