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Sickle cell S-C disease

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Disease definition

A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.

ORPHA:251365

Classification level: Disorder

Synonym(s):
  • Hemoglobin S-C disease
  • HbSC disease
  • Sickle cell-hemoglobin C disease

Source: PubMed ID 36073655 25596272 39647172

Prevalence: Unknown

Inheritance: Autosomal recessive

Age of onset: All ages

ICD-10: D57.2

ICD-11: 3A51.4 3A51.3

UMLS: C0019034

MeSH: D006450

GARD: 6584

MedDRA: 10057072

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

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

General public
Article for general public
Deutsch (2010) - Onkopedia
Guidelines
Emergency guidelines
Français (2021.pdf) - Orphanet Urgences
Anesthesia guidelines
Deutsch (2014) - Orphananesthesia
English (2014) - Orphananesthesia
Español (2014) - Orphananesthesia
Čeština (2014) - Orphananesthesia
Clinical practice guidelines
English (2015) - Eur J Hum Genet Logo ERN
English (2011) - Am J Hematol Logo ERN
English (2010) - Br J Haematol Logo ERN
Disease review articles
Clinical genetics review
English (2025) - GeneReviews
Disability
Disability factsheet
Genetic testing
Guidance for genetic testing
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