severe hemophilia A
Findings
No curated finding names severe hemophilia A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
Definition from the Mondo Disease Ontology (MONDO:0015719), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Prolonged partial thromboplastin timeHPOHP:0003645
- Very frequent (80% to 99% of cases)
- Reduced factor VIII activityHPOHP:0003125
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- Frequent (30% to 79% of cases)
- Joint hemorrhageHPOHP:0005261
- Frequent (30% to 79% of cases)
- Joint swellingHPOHP:0001386
- Frequent (30% to 79% of cases)
- Oral cavity bleedingHPOHP:0030140
- Frequent (30% to 79% of cases)
- Persistent bleeding after traumaHPOHP:0001934
- Frequent (30% to 79% of cases)
- Poor wound healingHPOHP:0001058
- Frequent (30% to 79% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- ArthralgiaHPOHP:0002829
- Occasional (5% to 29% of cases)
Show the remaining 15
- CephalohematomaHPOHP:0012541
- Occasional (5% to 29% of cases)
- Epidural hemorrhageHPOHP:0100310
- Occasional (5% to 29% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- Intracranial hemorrhageHPOHP:0002170
- Occasional (5% to 29% of cases)
- Intramuscular hematomaHPOHP:0012233
- Occasional (5% to 29% 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
Other names
3 names
Resolves to: severe hemophilia A
- Also called
- severe factor VIII deficiencysevere haemophilia type Asevere hemophilia type A