Living with Hereditary factor VIII deficiency disease
Another name for hemophilia A, an inherited bleeding disorder, mainly affecting males.
Understanding Hereditary factor VIII deficiency disease
People bleed more than normal after an injury, surgery, or dental work. It can be severe, moderate, or mild. In severe cases heavy bleeding can follow a minor injury or no injury. Bleeding into joints, muscles, the brain, or organs can cause pain and other serious complications. It mainly affects males and shows from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bleeding after minor or no injury
- Joint pain and swelling
- Bleeding in the mouth
- Bruises and pools of blood (hematomas)
- Low factor VIII level
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in F8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Hemophilia Federation of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hemophilia Federation of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hemophilia Federation of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the F8 gene, which lead to low levels of factor VIII, a protein needed to form clots. It is X-linked recessive.
Also known as: ahg deficiency disease; autosomal hemophilia a; classical hemophilia; congenital f8 deficiency; congenital factor viii deficiency; congenital factor viii deficiency disease
Patient organizations
- Hemophilia Federation of AmericaHereditary factor VIII deficiency disease · United States
- National Bleeding Disorders FoundationHereditary factor VIII deficiency disease · United States
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