Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:anemia hematologic disorder |
| gptkbp:affects |
red blood cells
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:characterizedBy |
gptkb:anemia
jaundice splenomegaly hemolysis spherocytes |
| gptkbp:complication |
gptkb:aplastic_crisis
gallstones |
| gptkbp:diagnosedBy |
gptkb:osmotic_fragility_test
peripheral blood smear EMA binding test |
| gptkbp:firstDescribed |
1871
|
| gptkbp:frequency |
1 in 2,000 to 1 in 5,000 people of Northern European descent
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary spherocytosis
|
| gptkbp:ICD-10_code |
D58.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D006478
|
| gptkbp:mutationAssociatedWith |
ANK1 gene
EPB42 gene SLC4A1 gene SPTA1 gene SPTB gene |
| gptkbp:OMIM |
182900
|
| gptkbp:prevalence |
most common inherited hemolytic anemia in people of Northern European descent
|
| gptkbp:symptom |
fatigue
enlarged spleen shortness of breath pallor dark urine |
| gptkbp:treatment |
gptkb:splenectomy
folic acid supplementation |
| gptkbp:bfsParent |
gptkb:anemia
|
| gptkbp:bfsLayer |
5
|