Hemophilia A & B: factor deficiency causing bleeding—symptoms, diagnosis and factor replacement.
- Typical symptoms: easy bruising, prolonged bleeding, and joint/muscle bleeds.
- Diagnosis: prolonged aPTT and low factor VIII (A) or factor IX (B) levels.
- Treatment: factor replacement (on-demand or prophylaxis) and bleed prevention.
Hemophilia is an inherited bleeding disorder where the blood cannot clot properly because a key clotting factor is missing. Hemophilia A involves factor VIII deficiency and Hemophilia B involves factor IX deficiency.
A common complication is bleeding into joints (knees, ankles, elbows), which can cause pain, swelling and long-term joint damage if not treated early. Head injury, neck swelling, or severe unexplained pain/swelling should be treated as an emergency.
Treatment is factor replacement therapy. Many patients benefit from prophylaxis (regular factor) to prevent bleeds. Planning is also needed for dental work and surgeries.