|
gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:hematologic_disease
|
|
gptkbp:affects
|
gptkb:hemoglobin
red blood cells
|
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gptkbp:alternativeName
|
gptkb:drepanocytosis
SCD
sickle cell disorder
|
|
gptkbp:canBeManagedBy
|
pain management
infection prevention
folic acid supplementation
|
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gptkbp:cause
|
hemolysis
vaso-occlusion
|
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gptkbp:causedBy
|
mutation in HBB gene
|
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gptkbp:complication
|
gptkb:acute_chest_syndrome
stroke
infections
organ damage
|
|
gptkbp:diagnosedBy
|
gptkb:blood_test
hemoglobin electrophoresis
|
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gptkbp:firstDescribed
|
1910
|
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gptkbp:hasCarrierState
|
sickle cell trait
|
|
gptkbp:hasGlobalPrevalence
|
millions affected worldwide
|
|
gptkbp:ICD-10_code
|
D57
|
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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
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Sickle Cell Disease
|