DISEASE SCANNER

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Hematologic Disorder

Hemophilia B (Factor IX Deficiency)

HIGH SEVERITY

An X-linked recessive bleeding disorder caused by deficiency of clotting factor IX, also known as Christmas disease. Affects approximately 1 in 30,000 male births. Clinically indistinguishable from Hemophilia A but requires different treatment. Less common than Hemophilia A, representing 15-20% of hemophilia cases.

Global Affected

100.0K

Countries

20

Symptoms

Spontaneous joint bleeding
Deep tissue bleeding
Prolonged bleeding after surgery
Easy bruising
Nosebleeds
Muscle hematomas
Intracranial hemorrhage risk
Gastrointestinal bleeding

Treatment Options

Recombinant factor IX replacement
Plasma-derived factor IX
Extended half-life factor IX products
Gene therapy (etranacogene dezaparvovec)
Prophylactic factor infusion
On-demand treatment for bleeding
Bypassing agents (for inhibitors)

Risk Factors

1Male gender (X-linked inheritance)
2Family history of Hemophilia B
3Spontaneous F9 gene mutation
4Maternal carrier status
5Consanguineous parents

Diagnostic Methods

  • 1Prolonged aPTT
  • 2Factor IX activity assay
  • 3Factor IX inhibitor screening
  • 4Genetic testing for F9 gene mutations
  • 5Carrier detection in female relatives
  • 6Prenatal diagnosis available

Prognosis

Similar to Hemophilia A with modern treatment. Life expectancy approaches normal with prophylaxis. Gene therapy has shown sustained factor IX activity in clinical trials, potentially offering functional cure. Inhibitor development is less common than Hemophilia A. Joint outcomes excellent with early prophylaxis. Regular monitoring and comprehensive care at hemophilia treatment centers recommended.

Prevention

  • Prophylactic factor replacement
  • Avoidance of trauma when possible
  • Regular exercise for joint health
  • Vaccinations (hepatitis A and B)
  • Genetic counseling
  • Early diagnosis and treatment

Research Status

Factor IX replacement therapy is standard treatment. Extended half-life products now available. Gene therapy has shown remarkable success with some patients achieving sustained normal factor IX levels after single infusion. Inhibitor development less common than Hemophilia A (3-5%).

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNetherlandsSwedenNorwayFinlandIndiaChinaSouth KoreaRussiaSouth Africa

Sources

  • https://www.cdc.gov/ncbddd/hemophilia
  • https://www.mayoclinic.org/diseases-conditions/hemophilia
  • https://www.who.int/news-room/fact-sheets/detail/hemophilia

Medical Disclaimer

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