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Anemia, Diamond-Blackfan MeSH Descriptor Data 2025


MeSH Heading
Anemia, Diamond-Blackfan
Tree Number(s)
C15.378.050.085.080.090
C15.378.050.750.500
C15.378.190.223.500.500.090
C16.320.077.090
Unique ID
D029503
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D029503
Scope Note
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)
Entry Term(s)
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
Diamond-Blackfan Anemia
Erythrogenesis Imperfecta
Hypoplastic Congenital Anemia
Inherited Erythroblastopenia
Pure Hereditary Red Cell Aplasia
Red Cell Aplasia, Pure, Hereditary
Previous Indexing
Anemia, Aplastic (1974-1991)
Fanconi Anemia (1992-2001)
Public MeSH Note
2002; see FANCONI ANEMIA 1992-2001
History Note
2002; use FANCONI ANEMIA 1992-2001
Date Established
2002/01/01
Date of Entry
2001/07/25
Revision Date
2023/02/26
Anemia, Diamond-Blackfan Preferred
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