Hemophilia A

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
bleeding disorder
gptkbp:affects males predominantly
gptkbp:alsoKnownAs gptkb:classic_hemophilia
gptkbp:causedBy deficiency of factor VIII
gptkbp:complication inhibitor development
hemarthrosis
intracranial hemorrhage
gptkbp:diagnosedBy genetic testing
factor VIII activity assay
gptkbp:differentialDiagnosis gptkb:von_Willebrand_disease
gptkb:Hemophilia_B
gptkbp:firstDescribed gptkb:John_Conrad_Otto
gptkbp:frequency most common type of hemophilia
gptkbp:gene gptkb:F8
https://www.w3.org/2000/01/rdf-schema#label Hemophilia A
gptkbp:ICD-10_code D66
gptkbp:inheritance X-linked recessive
gptkbp:locatedOnChromosome gptkb:Xq28
gptkbp:notableCase European royal families
gptkbp:OMIM 306700
gptkbp:prevalence 1 in 5,000 male births
gptkbp:prognosis improved with modern therapy
gptkbp:riskFactor family history of hemophilia
gptkbp:symptom easy bruising
prolonged bleeding
spontaneous joint bleeding
gptkbp:treatment desmopressin (mild cases)
factor VIII replacement therapy
gptkbp:bfsParent gptkb:Xq28
gptkbp:bfsLayer 6