sickle-hemoglobin C disease

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf gptkb:disease
hemoglobin
gptkbp:affects hemoglobin
gptkbp:alsoKnownAs gptkb:HbSC_disease
gptkbp:causedBy inheritance of one sickle cell gene and one hemoglobin C gene
gptkbp:complication gptkb:acute_chest_syndrome
stroke
avascular necrosis
retinal disease
gptkbp:diagnosedBy hemoglobin electrophoresis
gptkbp:firstDescribed 1940s
https://www.w3.org/2000/01/rdf-schema#label sickle-hemoglobin C disease
gptkbp:ICD-10_code D57.2
gptkbp:inheritance autosomal recessive
gptkbp:prevalence most common in people of African descent
gptkbp:symptom gptkb:anemia
jaundice
splenomegaly
retinopathy
painful crises
gptkbp:treatment gptkb:hydroxyurea
supportive care
blood transfusions
gptkbp:bfsParent gptkb:hemoglobin_SC_disease
gptkbp:bfsLayer 7