Anemia, Diamond-Blackfan

**Definition:** 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)

**Tree numbers:** - C15.378.050.085.080.090 - C15.378.050.750.500 - C15.378.190.223.500.500.090 - C16.320.077.090

**Synonyms:** - Diamond-Blackfan Anemia - Anemia, Diamond-Blackfan Type - Blackfan-Diamond Syndrome - Erythrogenesis Imperfecta - Red Cell Aplasia, Pure, Hereditary - Anemia, Congenital Hypoplastic, Of Blackfan And Diamond - Blackfan Diamond Anemia - Blackfan-Diamond Disease - 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 - Hypoplastic Congenital Anemia - Inherited Erythroblastopenia - Pure Hereditary Red Cell Aplasia