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Hemophilia

Hematologic Disorder

Overview

Hemophilia is X-linked bleeding disorder due to factor VIII (A) or IX (B) deficiency.

Symptoms

  • Joint bleeding
  • Muscle hematoma
  • Prolonged bleeding
  • Spontaneous bleeds (severe)

Diagnosis

  • aPTT ↑
  • FVIII/IX activity <40%
  • Genetic testing

Treatments

  • FVIII/IX concentrate
  • Prophylaxis
  • Emicizumab (A)

Risk Factors

⚠️X-linked
⚠️Family history

Key Facts

  • ℹ️1 in 5,000 males (A)
  • ℹ️Inhibitors in 30%

ICD-10: D66-D68 | Prevalence: nadir

Last updated: 11/9/2025