symptomatic form of hemophilia A in female carriers
MONDO:0015787Mondo
Findings
No curated finding names symptomatic form of hemophilia A in female carriers yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.
Definition from the Mondo Disease Ontology (MONDO:0015787), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bruising susceptibilityHPOHP:0000978
- Very frequent (80% to 99% of cases)
- Reduced factor VIII activityHPOHP:0003125
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- Frequent (30% to 79% of cases)
- MenorrhagiaHPOHP:0000132
- Frequent (30% to 79% of cases)
- Post-partum hemorrhageHPOHP:0011891
- Frequent (30% to 79% of cases)
- Prolonged bleeding after dental extractionHPOHP:0006298
- Frequent (30% to 79% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Frequent (30% to 79% of cases)
- Prolonged bleeding following procedureHPOHP:0011890
- Frequent (30% to 79% of cases)
- Joint hemorrhageHPOHP:0005261
- Occasional (5% to 29% of cases)
- Prolonged partial thromboplastin timeHPOHP:0003645
- Occasional (5% to 29% of cases)
- Spontaneous hematomasHPOHP:0007420
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- F8HGNC:3546
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of