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Sickle cell-hemoglobin C disease syndrome
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):
- HbSC disease
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: D57.2
- OMIM: -
- UMLS: C0019034
- MeSH: -
- GARD: 6584
- MedDRA: 10057072
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Deutsch (2014, pdf)
- English (2014, pdf)
- Clinical practice guidelines
- Deutsch (2014)
- Français (2010, pdf)
- Clinical genetics review
- English (2017)
- Disability factsheet
- Français (2019, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.