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