hemoglobin SC disease (with hemoglobin S)
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hemoglobin |
| gptkbp:causedBy |
mutation in HBB gene
|
| gptkbp:complication |
gptkb:acute_chest_syndrome
stroke priapism osteonecrosis |
| gptkbp:diagnosedBy |
hemoglobin electrophoresis
|
| gptkbp:firstDescribed |
1940s
|
| gptkbp:hasAbnormalHemoglobin |
gptkb:hemoglobin_C
gptkb:hemoglobin_S |
| https://www.w3.org/2000/01/rdf-schema#label |
hemoglobin SC disease (with hemoglobin S)
|
| gptkbp:ICD-10_code |
gptkb:D57.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
603903
|
| gptkbp:prevalence |
people of African descent
|
| gptkbp:symptom |
gptkb:anemia
jaundice splenomegaly retinopathy avascular necrosis painful crises |
| gptkbp:treatment |
gptkb:hydroxyurea
pain management blood transfusion folic acid supplementation |
| gptkbp:bfsParent |
gptkb:hemoglobin_C
|
| gptkbp:bfsLayer |
6
|