hemophilia A
Findings
No curated finding names hemophilia A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
Definition from the Mondo Disease Ontology (MONDO:0010602), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
24 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
- 132 of 151 reported patients
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Bleeding with minor or no traumaHPOHP:0011889
- Very frequent (80% to 99% of cases)
- Joint swellingHPOHP:0001386
- Very frequent (80% to 99% of cases)
- Reduced factor VIII activityHPO · MondoHP:0003125
- Very frequent (80% to 99% of cases)
- Persistent bleeding after traumaHPOHP:0001934
- 116 of 151 reported patients
- Joint hemorrhage
Show the remaining 12
- Intramuscular hematomaHPOHP:0012233
- Occasional (5% to 29% of cases)
- Intraventricular hemorrhageHPOHP:0030746
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- 39 of 151 reported patients
- Intracranial hemorrhageHPOHP:0002170
- Very rare (1% to 4% of cases)
- Splenic ruptureHPOHP:0012223
- Very rare (1% to 4% of cases)
- EpistaxisHPOHP:0000421
- 21 of 151 reported patients
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
- Definitive · ClinGen · X-linked · 2019
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
8 names
Resolves to: hemophilia A
- Also called
- congenital factor VIII disorderfactor VIII deficiencyhaemophilia a, X-linked recessivehaemophilia type Ahemophilia a, X-linked recessivehemophilia type Ahereditary Factor VIII deficiencyhereditary Factor VIII deficiency disease