Patients can have variable phenotypes. A small percentage of female carriers may present with a mild phenotype. In its most severe phenotype, patients can present with spontaneous hemorrhage.
Left untreated, hemophilia A may be fatal (intracranial hemorrhage) or result in severe motor impairment or paralysis (chronic joint disease).
Hemophilia A is a lifelong condition with no known cure. Management focuses primarily on prevention and symptom control.
Related topic: Hemophilia B
D66 – Hereditary factor VIII deficiency
28293008 – Hereditary factor VIII deficiency disease
- Vitamin K deficiency
- Glanzmann thrombasthenia
- Von Willebrand disease
- Hemophilia B (factor assay will differentiate)
- Clotting factor deficiencies (eg, factor 5, 7, 10, 11)
- Fibrinogen deficiency
- Scurvy – Bleeding is primarily mucosal.
- Disseminated intravascular coagulation (thrombocytopenia can differentiate)
- Child abuse
- Platelet dysfunction – Typically mucocutaneous hemorrhage, not musculoskeletal.
- Fabry disease – Typically mucosal hemorrhage.
Last Updated: 01/13/2020