|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:blood_disorder
gptkb:hemoglobin
|
|
gptkbp:affects
|
gptkb:hemoglobin
oxygen transport
red blood cells
|
|
gptkbp:alternativeName
|
gptkb:drepanocytosis
sickle cell disease
|
|
gptkbp:cause
|
blockage of blood vessels
sickling of red blood cells
|
|
gptkbp:causedBy
|
mutation in HBB gene
|
|
gptkbp:complication
|
gptkb:acute_chest_syndrome
stroke
organ damage
splenic sequestration
|
|
gptkbp:diagnosedBy
|
gptkb:blood_test
hemoglobin electrophoresis
|
|
gptkbp:firstDescribed
|
gptkb:James_B._Herrick
1910
|
|
gptkbp:frequency
|
1 in 365 African-American births (US)
|
|
gptkbp:hasCarrierAdvantage
|
malaria resistance
|
|
gptkbp:hasNoCure
|
true
|
|
gptkbp:ICD-10_code
|
D57
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:managedBy
|
preventing complications
regular medical care
|
|
gptkbp:MeSH_ID
|
D012906
|
|
gptkbp:mortalityRate
|
reduced life expectancy
|
|
gptkbp:mutationAssociatedWith
|
single nucleotide substitution
|
|
gptkbp:mutationDetail
|
gptkb:Glu6Val_in_beta-globin
|
|
gptkbp:OMIM
|
603903
|
|
gptkbp:prevalence
|
people of African descent
people of Mediterranean descent
people of Middle Eastern descent
people of South Asian descent
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:screenedAt
|
newborn screening
|
|
gptkbp:symptom
|
gptkb:anemia
fatigue
jaundice
frequent infections
delayed growth
painful episodes
|
|
gptkbp:treatment
|
gptkb:hydroxyurea
pain management
blood transfusion
bone marrow transplant
|
|
gptkbp:bfsParent
|
gptkb:HBB
gptkb:Sickle_cell_disease
gptkb:hydroxyurea
gptkb:Tionne_Watkins
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
sickle cell anemia
|