Sickle Cell Disease

GPTKB entity

Statements (50)
Predicate Object
gptkbp:instanceOf genetic disorder
hematologic disease
gptkbp:affects hemoglobin
red blood cells
gptkbp:alternativeName gptkb:drepanocytosis
SCD
sickle cell disorder
gptkbp:canBeManagedBy pain management
infection prevention
folic acid supplementation
gptkbp:cause hemolysis
vaso-occlusion
gptkbp:causedBy mutation in HBB gene
gptkbp:complication gptkb:acute_chest_syndrome
stroke
infections
organ damage
gptkbp:diagnosedBy blood test
hemoglobin electrophoresis
gptkbp:firstDescribed 1910
gptkbp:hasCarrierState sickle cell trait
gptkbp:hasGlobalPrevalence millions affected worldwide
https://www.w3.org/2000/01/rdf-schema#label Sickle Cell Disease
gptkbp:ICD-10_code D57
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D012640
gptkbp:molecularBasis Glu6Val mutation in beta-globin
gptkbp:namedAfter sickle-shaped red blood cells
gptkbp:OMIM 603903
gptkbp:prevalence people of African descent
people of Mediterranean descent
people of Middle Eastern descent
people of South Asian descent
gptkbp:prevention genetic counseling
gptkbp:riskFactor family history
genetic background
gptkbp:screenedAtBirth yes
gptkbp:subspecies gptkb:sickle_cell_anemia
gptkb:sickle_beta-thalassemia
gptkb:sickle-hemoglobin_C_disease
gptkbp:symptom gptkb:anemia
fatigue
jaundice
painful episodes
swelling of hands and feet
gptkbp:treatment gptkb:hydroxyurea
blood transfusion
bone marrow transplant
gptkbp:bfsParent gptkb:Red_Blood_Morphology
gptkbp:bfsLayer 7