Heart and Blood Conditions

Diamond Blackfan Anemia

What is Diamond Blackfan anemia?

Diamond Blackfan anemia (DBA) is a marrow failure disorder in which the bone marrow does not produce enough red blood cells. Red blood cells carry oxygen from the lungs to all parts of your body. A low level of red blood cells is called anemia. When anemic, the body's organs may not get enough oxygen. This can be life-threatening, but the severity of the anemia varies and may change over time.

A faulty gene accounts for over half of DBA cases. This faulty gene, or mutation, affects the ribosomes in the cells, which form the proteins in the body. In one quarter of patients, the faulty gene has been identified in the RPS19 gene, but other mutations have also been found. About 50% of DBA cases have a yet unidentified genetic mutation.

Is DBA common in children?

Most, but not all, cases of DBA are diagnosed during a baby's first year of life. Sometimes it is found later in life and even in adulthood. DBA is rare, affecting about seven children per million. A child with DBA is at higher risk for developing leukemia or solid tumors and should be followed closely by a hematologist (blood specialist) with experience in marrow failure syndromes.

Our doctors and researchers are working hard to understand what causes DBA. Learn more about research at Seattle Children's.

What care does Seattle Children's offer?

Your child can have a healthy, active life with DBA. However, medical care for a child with DBA can be complex and involves many healthcare providers. At Seattle Children's, our team includes you and your family, as well as experts in bone marrow disorders, cancer, bone marrow transplant, orthopedics and other medical specialties. Our team knows how important it is to talk with you, and with each other, to ensure comprehensive and coordinated care for your child.