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Blackfan-Diamond anemia

Disease definition

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

ORPHA:124

  • Synonym(s):
    • Aase syndrome
    • Aase-Smith II syndrome
    • Congenital PRCA
    • Congenital hypoplastic anemia, Blackfan-Diamond type
    • Congenital pure red cell aplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: D61.0
  • OMIM: 105650  300946  606129  606164  610629  612527  612528  612561  612562  612563  613308  613309  614900  615550  615909
  • UMLS: C1260899  C2931850
  • MeSH: D029503
  • GARD: 6274
  • MedDRA: 10062989

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