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. DBA is a potentially life-threatening condition that can cause severe anemia and other abnormalities.
Children with DBA are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure Program. Continue reading to learn more about Diamond Blackfan anemia or visit the Bone Marrow Failure Program homepage to learn about our expertise and treatment options for this condition.
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. Mutations in ribosomal protein genes account for 50 to 70 percent of DBA cases. In rare cases, DBA in boys is due to a mutation in the GATA-1 gene, which regulates the earliest steps in red blood cell production.
Most children experience symptoms very early in life. As a result, DBA is usually diagnosed before a child’s first birthday. The most common symptoms are:
About 40 percent of children with DBA also have one or more of the following physical characteristics:
To diagnose DBA, a child’s physician may order some or all of the following tests:
After all tests are completed, doctors will be able to outline the best treatment options.
Treatment of DBA may include:
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 blood and undergo tests to monitor for heart and liver damage.