Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hematologic disease |
| gptkbp:affects |
hemoglobin
red blood cells |
| gptkbp:cause |
chronic pain
retinopathy priapism gallstones hemolysis leg ulcers splenic sequestration vaso-occlusion |
| gptkbp:causedBy |
mutation in HBB gene
|
| gptkbp:complication |
gptkb:acute_chest_syndrome
stroke infections organ damage |
| gptkbp:diagnosedBy |
hemoglobin electrophoresis
newborn screening |
| gptkbp:firstDescribed |
1910
|
| gptkbp:frequency |
about 300,000 births per year worldwide
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sickle cell disease
|
| gptkbp:ICD-10_code |
D57
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:managedBy |
pain management
infection prevention folic acid supplementation |
| gptkbp:MeSH_ID |
D012906
|
| gptkbp:mortalityRate |
high in low-resource settings
|
| 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 |
| gptkbp:protectedBy |
malaria (heterozygote advantage)
|
| gptkbp:riskFactor |
malaria endemic regions
|
| gptkbp:subspecies |
gptkb:sickle_cell_anemia
gptkb:hemoglobin_SC_disease gptkb:sickle_beta-thalassemia |
| gptkbp:symptom |
gptkb:anemia
fatigue jaundice delayed growth painful episodes |
| gptkbp:treatment |
gptkb:hydroxyurea
blood transfusion bone marrow transplant |
| gptkbp:bfsParent |
gptkb:Pain
gptkb:Editas_Medicine |
| gptkbp:bfsLayer |
5
|