Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally. Affected individuals also have an increased risk of developing certain cancers, including a cancer of blood-forming tissue known as acute myeloid leukemia (AML) and a type of bone cancer called osteosarcoma.
A common complication of DBA is iron overload, which can affect the heart and liver. It results from the transfusions required for treatment. One unit of blood contains 200mg of iron, which would be the same amount of iron as eating 69 lean 3oz steaks. Treatment may include iron chelation drugs that remove iron from the blood to prevent complications. Another type of treatment for DBA is to undergo a stem cell transplant. Stem cell transplants (“SCT”) are also known as bone marrow or cord blood or peripheral blood stem cell transplantation (depending on the donor source). A SCT involves replacing a DBA patient’s unhealthy bone marrow with healthy cells from a donor. The donor’s stem cells can be obtained from bone marrow, peripheral blood, or cord blood. This is a complicated medical procedure that requires several months in the hospital and is not without risk.
The reward for a successful bone marrow transplant is that the patient’s bone marrow will function normally and the patient will not need chronic blood transfusion therapy or corticosteroid medication.