severe hemophilia

GPTKB entity

Properties (49)
Predicate Object
gptkbp:instanceOf hemophilia
gptkbp:associatedWith hemarthrosis
muscle bleeds
intracranial_hemorrhage
gptkbp:causedBy deficiency of clotting factor VIII
gptkbp:clinicalTrials gene therapy trials
ongoing studies for new treatments
factor replacement studies
gptkbp:demographics 1 in 5,000 male births
gptkbp:diseaseResistance blood tests
gptkbp:educational_programs support groups
patient education materials
medical professional training
gptkbp:emergencyServices requires access to clotting factor
requires immediate medical attention for bleeding
gptkbp:events gptkb:National_Hemophilia_Month
gptkb:World_Hemophilia_Day
gptkbp:geneticDiversity mutations in F8 gene
gptkbp:hasPopulation can affect females in rare cases
primarily affects males
https://www.w3.org/2000/01/rdf-schema#label severe hemophilia
gptkbp:impact improve quality of life
gene therapy
desmopressin
factor replacement therapy
reduce complications
prevent bleeding episodes
gptkbp:legalEvent normal with treatment
gptkbp:manager prophylactic treatment
gptkbp:nobleFamily X-linked recessive
gptkbp:providesServices gptkb:World_Federation_of_Hemophilia
gptkb:National_Hemophilia_Foundation
gptkb:Hemophilia_Federation_of_America
gptkbp:relatedPatent chronic pain
joint damage
inhibitor development
gptkbp:researchFocus immunotherapy
gene editing
new therapies
gptkbp:riskManagement genetic mutations
male gender
family_history_of_hemophilia
gptkbp:screenings genetic testing
family history
gptkbp:symptoms joint pain
easy bruising
excessive bleeding
usually diagnosed in childhood
gptkbp:threats most_severe_form_of_hemophilia