Diamond-Blackfan Anemia| Diagnosis & Treatment

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.