sickle cell-hemoglobin c disease syndrome
Findings
No curated finding names sickle cell-hemoglobin c disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016669), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HBBHGNC:4827
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: sickle cell-hemoglobin c disease syndrome
- Also called
- HbSC disease