Overview

• A bleeding disorder, usually inherited with an X-linked recessive inheritance pattern, which results from the deficiency of a coagulation factor leading to impaired secondary haemostasis
• X-Linked ⇒ primarily affects males, females may be carriers and show mild symptoms (males only have one X chromosome, whereas females have two)
  • ALMOST IMPOSSIBLE FOR FEMALE TO HAVE
• Haemophilia A (80%) → deficiency of clotting factor VIII
• Haemophilia B (20%) → deficiency of clotting factor IX
• Mild vs Moderate vs Severe Haemophilia

Making Diagnosis

Clinical Features:

• Recurrent or Severe Bleeding → prolonged bleeding after surgery or trauma
• Bleeding into Muscles → musculoskeletal bleeding is hallmark of haemophilia. Presents with pain and swelling of the involved area, with decreased range of motion, erythema, and increased local warmth.
• Haemarthrosis without trauma (bleeding into joints) → presents as swelling of joints, with associated pain, decreased range of motion, and increased warmth
• Excessive bruising/haematoma
• Epistaxis
• Presentation in Neonates → prolonged bleeding following heel prick or circumcision

Investigations:

• Prolonged APTT → factor 8 and 9 are in the intrinsic pathway
  • Intrinsic Pathway (APTT) ⇒ 8,9,11,12
  • Extrinsic Pathway (PT) ⇒ 3,7
  • Common Pathway ⇒ 1,2,5,10,13