DISEASE SCANNER

Global Incurable Diseases Tracker

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Hematologic Disorder

Hemophilia A and B

HIGH SEVERITY

Rare inherited bleeding disorders caused by deficiency in clotting factor VIII (Hemophilia A) or IX (Hemophilia B/Christmas disease). X-linked recessive inheritance affecting primarily males. Characterized by prolonged bleeding after injury, surgery, or spontaneous bleeding into joints and muscles.

Global Affected

400.0K

Countries

111

Symptoms

Prolonged bleeding after cuts
Spontaneous joint bleeding (hemarthrosis)
Deep muscle bleeding
Easy bruising
Blood in urine or stool
Nosebleeds
Bleeding after dental procedures
Intracranial hemorrhage (severe)
Joint damage over time

Treatment Options

Factor VIII/IX replacement
Extended half-life products
Emicizumab (Hemlibra)
Gene therapy
Desmopressin (mild hemophilia A)
Antifibrinolytic agents
Immune tolerance induction
Prophylactic factor infusions

Risk Factors

1Male sex (X-linked)
2Family history
3Mother is carrier
4New mutations (30% of cases)
5Consanguinity

Diagnostic Methods

  • 1Activated partial thromboplastin time (aPTT)
  • 2Factor VIII/IX activity assay
  • 3Platelet count (normal)
  • 4Prothrombin time (normal)
  • 5Genetic testing
  • 6Inhibitor screening

Prognosis

Excellent with modern treatment; normal life expectancy with prophylaxis. Joint disease still major complication if not adequately treated. Inhibitors (antibodies) complicate treatment in 30% of severe hemophilia A. Gene therapy offers potential functional cure. Intracranial hemorrhage remains life-threatening.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Prophylactic factor replacement
  • Avoidance of high-risk activities
  • Regular dental care
  • Hepatitis vaccination

Research Status

Recombinant factor VIII and IX concentrates standard of care. Extended half-life products reduce infusion frequency. Emicizumab (Hemlibra) prophylaxis revolutionized treatment. Gene therapy (etranacogene dezaparvovec, valoctocogene roxaparvovec) recently approved. Immune tolerance induction for inhibitors. Novel non-factor therapies in development.

Sources

  • https://www.cdc.gov/ncbddd/hemophilia/index.html
  • https://www.who.int/news-room/fact-sheets/detail/haemophilia
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.