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Congenital atransferrinemia

Disease definition

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

ORPHA:1195

  • Synonym(s):
    • Congenital hypotransferrinemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E88.0
  • OMIM: 209300
  • UMLS: C0521802  C1859593
  • MeSH: C538259
  • GARD: 9595
  • MedDRA: -

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