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
|