Hemophilia B

Hemophilia B
Updated: 07/25/2023
© Jun Wang, MD, PhD

General features
  • AKA Christmas disease
  • X-linked recessive
  • Less common than Hemophilia A
  • May be result of spontaneous mutation
  • Almost exclusively affects males
Clinical presentations
  • Easy bruising
  • Bleeding into joints (hemarthrosis), soft tissue, GI/ GU tract
  • Excessive bleeding after surgery
  • Mild: > 5% factor VIII activity, bleeding after trauma or surgery
  • Moderate: 1% - 5% activity; bleeding after surgery or trauma, may have spontaneous bleeding
  • Severe: < 1% activity; spontaneous bleeding, may be life-threatening
Key pathogenesis
  • Factor IX deficiency
  • Presentation in female patients due to
High degree of X-inactivation
Homozygosity
Hemizygosity in Turner syndrome
  • May be caused by inhibitory antibodies against factor IX
Key Laboratory findings
  • Normal to prolonged aPTT
  • Reduced factor IX
Mild: > 5%
Moderate: > 1-5%
Severe: < 1%
Treatment
  • Factor replacement: Factor IX, factor IX complex, recombinant factor IX, etc
  • Management of bleeding
  • Rehabilitation of hemarthrosis and hemophilia arthropathy

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