Blackfan-Diamond anemia (BDA) is a rare and serious disorder that results in blood cytopenias. It is an inherited condition characterized by a bone marrow failure state causing aplasia of the erythroid series only. The white cells and platelets are not affected.

Patients with BDA develop anemia, usually in infancy, and are diagnosed most typically in the first year of life. Roughly half of patients will have physical abnormalities such as microcephaly, hypertelorism, ptosis, broad nasal bridge, small ears, cleft palate, cleft lip, micrognathia, short stature, and thumb defects. Some may present with heart, kidney, and genitourinary defects. Signs and symptoms include pallor, fatigue, failure to thrive, anorexia, jaundice, icteric sclera, and splenomegaly.

Treatment is red blood cell transfusion and therapy with corticosteroids. Approximately 30 new cases occur in the United States each year.

Related topic: pure red cell aplasia