Anemia, Diamond-Blackfan
MESHD029503
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
- Anemia, Diamond Blackfan
- Diamond-Blackfan Anemia
- Diamond Blackfan Anemia
- Anemia, Diamond-Blackfan Type
- Anemia, Diamond Blackfan Type
- Diamond-Blackfan Type Anemia
- Blackfan-Diamond Syndrome
- Blackfan Diamond Syndrome
- Erythrogenesis Imperfecta
- Erythrogenesis Imperfectas
- Imperfecta, Erythrogenesis
- Imperfectas, Erythrogenesis
- Red Cell Aplasia, Pure, Hereditary
- Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
- Blackfan Diamond Anemia
- Anemia, Blackfan Diamond
- Diamond Anemia, Blackfan
- Blackfan-Diamond Disease
- Blackfan Diamond Disease
- Disease, Blackfan-Diamond
- 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
- Anemia, Hypoplastic Congenital
- Anemias, Hypoplastic Congenital
- Congenital Anemia, Hypoplastic
- Congenital Anemias, Hypoplastic
- Hypoplastic Congenital Anemias
- Inherited Erythroblastopenia
- Erythroblastopenia, Inherited
- Erythroblastopenias, Inherited
- Inherited Erythroblastopenias
- Pure Hereditary Red Cell Aplasia
Source last updated 2026-05-24T15:25:24.801Z