Orphanet: Sickle cell anemia

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Sickle cell anemia

Disease definition

A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D57.0  D57.1  D57.2
  • ICD-11: 3A51.1  3A51.2
  • OMIM: 603903
  • UMLS: C0002895
  • MeSH: D000755
  • GARD: 8614
  • MedDRA: 10040641

Detailed information

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Disease review articles


Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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