Hemophilia

• Hemophilia is a group of genetic bleeding disorders caused by deficiencies in various clotting factors
• Hemophilia

  Pattern of inheritance: X-linked recessive gene

  • Usually the carrier: female
  • Usually the affected: male
  • 50 % chance to have the disease
• Types of Hemophilia

  Type A - Deficiency in clotting factor VIII
• Types of Hemophilia

  Type A - also known as 'classic' hemophilia
• Types of Hemophilia

  Type B - Deficiency in clotting factor IX
• Types of Hemophilia

  Type B -  also known as Christmas Disease
• Types of Hemophilia


  Type C - Deficiency in clotting factor 11
• Signs and symptoms: Hemophilia

  • Hemarthrosis - bleeding of the joints
  • Epistaxis (most common sign)
  • Hematuria
  • Hemorrhage = shock
  • Most fatal: intracranial bleeding
• Hemophilia: Diagnostic

  1. Platelet count - normal
  2. PT time - normal
  3. PTT - confimatory

  • prolonged
  • normal in infants: <90 seconds
• Management: Hemophilia

  • Prevent and control bleeding episodes (no invasive procedures)
  • Use small gauge needle and then apply firm pressure (5-10 seconds(
  • Avoid contact sports (no ball games)

  Best game: board games

  Best sport: swimming

  • Blood transfusion

  Cryoprecipitate - 20 to 30 minutes

  Fresh frozen plasma - 1 to 1 1/2 hours

  • No aspirin or ASA

  Can cause Reye's Syndrome

  • Control of bleeding: RICE