hemophilia B; factor IX deficiency ; Christmas disease

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Epidemiology

Genetics

Clinical manifestations

Laboratory

Complications

Management

Notes

  • in 1952, one of the early researchers of the disease, Dr. R.G. Macfarlane used the patient's surname, Christmas, to refer to the disease & also to refer to the clotting factor which he called the 'christmas factor'
  • at the time. Stephen Christmas was a 5-year-old boy
  • he died in 1993 at the age of 46 from AIDS contracted through treatment with blood products

More general terms

Additional terms

References

  1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 885
  2. Jump up to: 2.0 2.1 Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2006, 2012, 2015, 2018, 2022
  3. Jump up to: 3.0 3.1 ARUP Consult: Hemophilia - Factor VIII or IX Deficiency The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/hemophilia
  4. Jump up to: 4.0 4.1 Broderick CR et al Association Between Physical Activity and Risk of Bleeding in Children With Hemophilia JAMA. 2012;308(14):1452-1459 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23047359 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=1377921
    Manco-Johnson MJ Collision Sports and Risk of Bleeding in Children With Hemophilia JAMA. 2012;308(14):1480-1481 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23047364 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=1377908
  5. Jump up to: 5.0 5.1 Nathwani AC et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med 2014 Nov 20; 371:1999 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25409372 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1407309
  6. Anello J, Feinberg B, Heinegg J et al Hemophilia Guidelines on management of acute joint bleeds and chronic synovitis in hemophilia by the United Kingdom Haemophilia Centre Doctors' Organisation. Medscape: New Guidelines and Recommendations, August 2017. http://reference.medscape.com/viewarticle/884517

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