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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:
Some patients with DBA undergo spontaneous remission without treatment. For others, the most common treatments are:
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.
Read about an infant girl treated at Johns Hopkins Children’s Center for DBA.
For more information, see the Diamond Blackfan Anemia Foundation’s webpage.