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What is Diamond-Blackfan anemia?

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. First described in 1938 by Boston Children's Hospital doctors Kenneth Blackfan, MD, and Louis Diamond, MD (who later established Dana-Farber/Boston Children's Cancer and Blood Disorders Center), DBA is a potentially life-threatening condition that can cause severe anemia and other abnormalities.

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Zebrafish make good stand-ins for studying diseases, like Diamond-Blackfan anemia .

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Zebrafish with red blood cells

Diamond-Blackfan Anemia | Symptoms & Causes

What are the symptoms of Diamond-Blackfan anemia?

Most children experience symptoms very early in life. As a result, Diamond-Blackfan anemia (DBA) is usually diagnosed before a child’s first birthday, though it can appear at any age. The most common symptoms of DBA are:

  • pale skin
  • lack of energy or tiring easily (fatigue); infants may get tired during feeding
  • shortness of breath or difficulty breathing (dyspnea)

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

  • short stature
  • head, face and neck abnormalities
  • thumb defects
  • kidney or heart defects

What are the causes of 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. More than half of children with DBA have ribosomal and non-ribosomal mutations in genes located on more than 11 chromosomes. 

In rare cases, DBA in boys can be due to a mutation in a gene called GATA-1, which controls the earliest steps of red blood cell production.

Diamond-Blackfan Anemia | Diagnosis & Treatments

How is Diamond-Blackfan anemia diagnosed?

To diagnose Diamond-Blackfan anemia (DBA), your 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 and reticulocytes [young red cells], but normal numbers of white cells and platelets).
  • Bone marrow aspiration and biopsy in which marrow may be removed by aspiration and a needle biopsy under local anesthesia and conscious sedation so that the child remains calm and comfortable during the procedure. In a bone marrow aspiration, a fluid specimen is removed from the bone marrow. In a needle biopsy, marrow cells (not fluid) are removed. These methods are always used together.
  • Additional blood tests, including genetic tests to confirm the diagnosis or to test for other similar types of anemia that can affect children.

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

What are the treatment options for Diamond-Blackfan anemia?

Steroid therapy

Steroid therapy increase hemoglobin by stimulating the bone marrow to produce more red blood cells. The majority of children respond well to steroid therapy, and the dose can be often be weaned to a low dose that causes few side effects.

Blood transfusion

Blood transfusion is used when anemia is unusually severe or when steroid therapy is not effective.

Stem cell transplant

Currently, this is the only cure for DBA. Stem cell transplantation involves replacing of diseased blood-forming stem cells with another person’s healthy stem cells. Unfortunately it may not be an option for everyone. The success of a transplant depends on many factors, such as how close the match is between child and donor and the patient's age. Matched siblings are best; if your child has a sibling, the chance of a complete tissue match is 1 in 4. The degree to which your child's bone marrow has failed also factors into the discussion whether to pursue a transplant. The decision to proceed with bone marrow transplant should be discussed with your child’s hematologist and a stem cell transplant team.

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 body. We also offer special MRI tests that monitor the iron content of the heart and liver during treatment.

What is the long-term outlook for a child with Diamond-Blackfan anemia?

Children with DBA require lifelong follow-up care to manage symptoms, give therapies, such as steroids and 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.

How we care for Diamond-Blackfan anemia

Children and teens with Diamond-Blackfan anemia (DBA) are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and MDS Program, recognized as one of the nation's best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced diagnosis and treatments, including DNA mutation identification and ongoing clinical trials investigating new treatments. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. Stem cell (bone marrow) transplant is currently the only cure for DBA.

Diamond-Blackfan Anemia | Research & Innovation

Our areas of research

In addition to providing information and access to local and national research initiatives, our clinic offers multidisciplinary care (physician specialists, dentists, nurse practitioners, social workers) and consultative services for patients with Diamond-Blackfan anemia.

Our researchers are actively collecting samples of blood and bone marrow (voluntary) from patients with Diamond-Blackfan anemia and other bone marrow failure syndromes. Collections and registries like this help researchers and physicians better understand genetic and molecular aspects of the diseases and clinical outcomes of patients — first steps to identifying possible new treatments.

In addition, physician-scientists at Dana-Farber/Boston Children's are active in research programs that involve:

  • ribosome function in human and mouse cells
  • the role of GATA-1 in DBA
  • genetics of DBA
  • screening of candidate new drugs in zebrafish

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

Diamond-Blackfan Anemia | Programs & Services