Diamond-Blackfan Anemia

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

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Aplastic Anemia: 6117
      - Congenital Hypoplastic Anemia: 45
        Diamond-Blackfan Anemia: 377
    - Pure Red-Cell Aplasia: 985
      - Diamond-Blackfan Anemia: 377
  - Bone Marrow Diseases: 135
    - Bone Marrow Failure Disorders: 1082
      - Congenital Bone Marrow Failure Syndromes: 107
        Congenital Hypoplastic Anemia: 45
        Diamond-Blackfan Anemia: 377
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Congenital Hypoplastic Anemia: 45
    - Diamond-Blackfan Anemia: 377

Diamond-Blackfan Anemia 1

Disease Context: Research Results