Hemophilia B
From Anvita Health Wiki
Contents |
Epidemiology
- less common than hemophilia A (0.1)
Genetics
- X-linked recessive
- transmitted from unaffected mother to male offspring
Clinical-manifestations
- history of spontaneous bleeding since childhood
- excessive bleeding following surgery & dental procedures
- joint deformities & contractures
- hemorrhages into muscle
- excessive bleeding from minor trauma
- easy bruising
- no excessive bleeding after minor cuts
- clinically indistinguishable from hemophilia A, Female carriers are asymptomatic.
Laboratory
- complete blood count ( CBC) - evaluate anemia
- prothrombin time (PT) is normal
- prolonged partial thromboplastin time ( PTT)
- correction of PTT with normal serum or factor IX
- factor IX plasma activity
- PCR/ southern blot
Management
- fresh frozen plasma
- cryoprecipitate
- factor 9 concentrate
- recombinant factor IXa ( Benefix)
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
- coagulation factor IX; Christmas factor; plasma thromboplastin component; PTC; contains: coagulation factor IXa light chain; coagulation factor IXa heavy chain (F9)
- hemophilia A; factor VIII deficiency
- PCR/southern blot for hemophilia B
Internet Database
OMIM: 306900
References
- DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 885
- Medical Knowledge Self Assessment Program (MKSAP) 11, 14, American College of Physicians, Philadelphia 1998, 2006
