Hematology: Hemophilia

Definition

• Disorders of Blood Coagulation
• X-Linked Recessive
• Generally Caused by Factor Deficiencies

Classification

• Hemophilia A
  • Deficiency: Factor VIII Mn
• Hemophilia B
  • Also Known as Christmas Disease
  • Deficiency: Factor IX
• Hemophilia C
  • Deficiency: Factor XI
  • Behaves Differently than Hemophilia A or B
  • *See Hematology & Oncology: General Bleeding Disorders

Presentation

• Hemarthrosis – Most Common Site
• Epistaxis
• GI Bleed
• Heavy Menstrual Bleeding
• Intracranial Hemorrhage

Diagnosis

• Labs:
  • Bleeding Time: Normal
  • PT: Normal
  • PTT: Prolonged (May Be Normal for Mild Disease)
• Confirmatory Test: Factor Activity Levels

Severity

• Mild: Factor Activity 5-40% of Normal (0.05-0.40 IU/mL)
• Moderate: Factor Activity 1-5% of Normal (0.01-0.05 IU/mL)
• Severe: Factor Activity < 1% of Normal (< 0.01 IU/mL)
• *Bleeding Severity Strongly Correlates to Factor Levels

Treatment

• Follow World Federation of Hemophilia (WFH) Guidelines
• Major/Life-Threatening Bleeding:
  • Hemophilia A: Factor VIII Concentrate (50 U/Kg)
    • If Unavailable: Cryoprecipitate
  • Hemophilia B: Factor IX Concentrate (100-120 U/Kg)
    • If Unavailable: FFP
• Goals Prior to Major Surgery:
  • Hemophilia A: Factor Level 80-100%
  • Hemophilia B: Factor Level 60-80%