RT Book, Section
A1 Arruda, Valder R.
A1 High, Katherine A.
A2 Longo, Dan L.
SR Print(0)
ID 1128354715
T1 COAGULATION DISORDERS
T2 Harrison's Hematology and Oncology, 2e
YR 2013
FD 2013
PB McGraw-Hill Education
PP New York, NY
SN 9780071814904
LK hemonc.mhmedical.com/content.aspx?aid=1128354715
RD 2024/04/23
AB Deficiencies  of  coagulation  factors  have  been  recognized  for  centuries.  Patients  with  genetic  deficiencies  of  plasma  coagulation  factors  exhibit  life-long  recurrent  bleeding  episodes  into  joints,  muscles,  and  closed  spaces,  either  spontaneously  or  following  an  injury.  The  most  common  inherited  factor  deficiencies  are  the  hemophilias,  X-linked  diseases  caused  by  deficiency  of  factor  (F)  VIII  (hemophilia  A)  or  factor  IX  (FIX,  hemophilia  B).  Rare  congenital  bleeding  disorders  due  to  deficiencies  of  other  factors,  including  FII  (prothrombin),  FV,  FVII,  FX,  FXI,  FXIII,  and  fibrinogen,  are  commonly  inherited  in  an  autosomal  recessive  manner  (Table  20-1).  Advances  in  characterization  of  the  molecular  bases  of  clotting  factor  deficiencies  have  contributed  to  better  understanding  of  the  disease  phenotypes  and  may  eventually  allow  more  targeted  therapeutic  approaches  through  the  development  of  small  molecules,  recombinant  proteins,  or  cell  and  gene-based  therapies.