Orphanet: Congenital dyserythropoietic anemia type IV

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Congenital dyserythropoietic anemia type IV

Disease definition

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.


Classification level: Disorder
  • Synonym(s):
    • CDA IV
    • CDA due to KLF1 mutation
    • CDA type 4
    • CDA type IV
    • CDAN4
    • Congenital dyserythropoietic anemia due to KLF1 mutation
    • Congenital dyserythropoietic anemia type 4
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D64.4
  • OMIM: 613673
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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