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