DISEASE SCANNER
Global Incurable Diseases Tracker
Hemophilia A and B
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.
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Symptoms
Treatment Options
Risk Factors
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.
Affected Countries
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.