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gptkbp:instanceOf
|
genetic disorder
bleeding disorder
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|
gptkbp:affects
|
mostly males
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gptkbp:alternativeTreatment
|
gene therapy (experimental)
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|
gptkbp:canBeCarrier
|
females
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gptkbp:canBeDiagnosedPrenatally
|
yes
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gptkbp:causedBy
|
deficiency of factor VIII
|
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gptkbp:complication
|
hemarthrosis
intracranial hemorrhage
muscle hematoma
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gptkbp:diagnosedBy
|
factor VIII activity assay
|
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gptkbp:differentialDiagnosis
|
gptkb:von_Willebrand_disease
gptkb:hemophilia_B
|
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gptkbp:firstDescribed
|
gptkb:John_Conrad_Otto
|
|
gptkbp:frequency
|
most common type of hemophilia
|
|
gptkbp:gene
|
gptkb:F8
|
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gptkbp:hasAwarenessDay
|
gptkb:April_17_(World_Hemophilia_Day)
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gptkbp:hasSeverity
|
moderate
mild
severe
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|
https://www.w3.org/2000/01/rdf-schema#label
|
hemophilia A
|
|
gptkbp:ICD-10_code
|
D66
|
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gptkbp:inheritance
|
X-linked recessive
|
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gptkbp:inheritsFrom
|
X-linked recessive
|
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gptkbp:locatedOnChromosome
|
gptkb:Xq28
|
|
gptkbp:mutationAssociatedWith
|
inversion of intron 22 (common)
|
|
gptkbp:namedAfter
|
Greek word for blood (haima) and love (philia)
|
|
gptkbp:notableCase
|
European royal families
|
|
gptkbp:OMIM
|
306700
|
|
gptkbp:prevalence
|
1 in 5,000 male births
|
|
gptkbp:prophylaxis
|
regular factor VIII infusions
|
|
gptkbp:registration
|
gptkb:World_Federation_of_Hemophilia
|
|
gptkbp:relatedTo
|
gptkb:hemophilia_B
gptkb:hemophilia_C
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
easy bruising
prolonged bleeding
spontaneous joint bleeding
|
|
gptkbp:treatment
|
desmopressin (mild cases)
factor VIII replacement therapy
|
|
gptkbp:treatmentComplication
|
inhibitor development
|
|
gptkbp:bfsParent
|
gptkb:Sigilon_Therapeutics
|
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gptkbp:bfsLayer
|
4
|