A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)

Synonyms: Erythroblastopenia, Inherited, Anemia, Diamond-Blackfan Type, Blackfan Diamond Disease, Congenital Hypoplastic Anemia of Blackfan and Diamond, Diamond-Blackfan Type Anemia, Congenital Erythroid Hypoplastic Anemia, Hypoplastic Congenital Anemias, Anemias, Hypoplastic Congenital, Anemia, Diamond Blackfan, Anemia, Diamond-Blackfan, Congenital Anemias, Hypoplastic, Anemia, Congenital Hypoplastic, Of Blackfan And Diamond, Diamond Anemia, Blackfan, Blackfan Diamond Anemia, Diamond Blackfan Anemia, Blackfan Diamond Syndrome, Chronic Congenital Agenerative Anemia, Red Cell Aplasia, Pure, Hereditary, Anemia, Hypoplastic Congenital, Imperfecta, Erythrogenesis, Inherited Erythroblastopenias, Erythrogenesis Imperfectas, Imperfectas, Erythrogenesis, Diamond-Blackfan Anemia, Hypoplastic Congenital Anemia, Blackfan-Diamond Disease, Disease, Blackfan-Diamond, Blackfan-Diamond Syndrome, Inherited Erythroblastopenia, Anemia, Diamond Blackfan Type, Congenital Pure Red Cell Anemia, Pure Hereditary Red Cell Aplasia, Congenital Anemia, Hypoplastic, Erythrogenesis Imperfecta, Anemia, Blackfan Diamond, Erythroblastopenias, Inherited, Congenital Pure Red Cell Aplasia