|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:anemia
|
|
gptkbp:affects
|
red blood cells
|
|
gptkbp:associatedWith
|
gptkb:ANK1
gptkb:EPB42
gptkb:SPTA1
gptkb:SPTB
gptkb:SLC4A1
|
|
gptkbp:cause
|
extravascular hemolysis
increased red cell destruction
|
|
gptkbp:causedBy
|
mutations in genes encoding red blood cell membrane proteins
|
|
gptkbp:complication
|
gptkb:aplastic_crisis
leg ulcers
cholelithiasis
|
|
gptkbp:diagnosedBy
|
gptkb:osmotic_fragility_test
blood smear
EMA binding test
|
|
gptkbp:firstDescribed
|
1871
|
|
gptkbp:ICD-10_code
|
D58.0
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D006482
|
|
gptkbp:namedAfter
|
spherocyte shape of red blood cells
|
|
gptkbp:OMIM
|
182900
|
|
gptkbp:prevalence
|
most common inherited hemolytic anemia in people of Northern European descent
|
|
gptkbp:redCellMorphology
|
spherocytes
|
|
gptkbp:symptom
|
gptkb:anemia
jaundice
splenomegaly
gallstones
|
|
gptkbp:treatment
|
gptkb:splenectomy
blood transfusion
folic acid supplementation
|
|
gptkbp:bfsParent
|
gptkb:Red_Blood_Morphology
gptkb:Congenital_Hemolytic_Spherocytic_Syndrome
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Hereditary Spherocytosis
|