Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hemoglobin blood disorder |
| gptkbp:affects |
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 |
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
|
| https://www.w3.org/2000/01/rdf-schema#label |
sickle cell anemia
|
| 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:hemoglobin
gptkb:anemia gptkb:Natural_Selection |
| gptkbp:bfsLayer |
5
|