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School of Medicine
Diamond-Blackfan anemia (DBA) is a rare blood disorder in which the bone marrow does not make enough red blood cells to carry oxygen throughout the body. It is associated with birth defects or abnormal features. DBA is a potentially life-threatening condition that can cause severe anemia; patients require ongoing medical management by experienced hematologists. DBA patients also may be at higher risk of developing acute myeloid leukemia (AML). However, people with DBA can live long, healthy, active lives if they get good medical care and live a healthy lifestyle.
Some people have a family history of DBA, and more than half of people have a known genetic cause. In many cases, the cause cannot be detected.
People with DBA have symptoms common to other types of anemia, including pale skin, sleepiness, rapid heartbeat, and heart murmurs. They may also have difficulty breathing. In some cases, there are no obvious physical signs of DBA. However, about 40% of those with DBA have abnormal features involving the face, head, and neck, or thumb defects. They might also have heart and kidney defects. Many children are short for their age and start puberty later than normal.
Most patients are diagnosed within their first year of life. A child’s doctor may order one or all of the following tests:
- Blood tests -- A complete blood count (CBC) with reticulocytes (a measure of how quickly the bone marrow is producing immature red blood cells) may help the doctor understand the cause of the disorder.
- Bone marrow exam – Samples of fluid and solid portions of the bone marrow may be removed under local anesthesia, allowing the doctor to look for abnormalities such as a lack of immature red blood cells.
- Other tests – including additional blood tests or genetic tests may be ordered to rule out other types of anemia or other disorders.
Some patients with DBA undergo spontaneous remission without treatment. For others, the most common treatments are:
- Medications – Drugs called corticosteroids, like prednisone, are often given to make the patient’s bone marrow create red blood cells.
- Blood transfusions – Patients who don’t respond to steroids or whose condition persists despite medication may benefit from blood transfusions, in which healthy red blood cells from another person are delivered through a needle or catheter inserted into a vein. Transfusions can be needed as often as every three to five weeks, only a few times per year, or sometimes may not be needed for years. Doctors monitor patients receiving frequent transfusions to watch for iron overload. If too much iron builds up in the blood, patients also may need chelation therapy – medications to remove excess iron.
- Stem cell transplant/Bone marrow transplant – The only curative treatment for bone marrow failure disorders is stem cell transplantation, in which a patient’s bone marrow/stem cells are replaced with those from a healthy, matching donor. The most successful outcomes are among patients who have an unaffected, tissue-compatible sibling to serve as a donor.
At Johns Hopkins:
Johns Hopkins scientist Jason Farrar, M.D., was part of a team that first described gene deletions in areas of ribosomal protein genes. This has accounted for 70 to 75 percent of gene mutations and deletions found in the DBA population. The work was published in 2011 in the journal Blood. See an abstract of the article.
Dr. Farrar spoke at the International DBA Consensus Conference in March 2012 in New York, presenting his work scanning the genomes of DBA patients for larger deletions containing genes whose loss would have been missed by traditional DNA sequencing technology. In some patients, these deletions were found in mosaic cell populations where some of the cells had the deletion and others did not. This mosaicism appears to be linked to remission in certain DBA patients.More information.
For more information, see the Diamond Blackfan Anemia Foundation’s webpage.