RT Book, Section
A1 Walsh, Christopher E.
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102699828
T1 Hemophilia
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102699828
RD 2024/04/18
AB Disease  summary:The  hemophilia  A  and  B  are  sex-linked  disorders  leading  to  deficiencies  of  coagulation  factor  VIII  (FVIII)  and  FIX,  respectively.  Bleeding  is  the  hallmark  of  the  disease,  principally  joint  and  soft  tissue  bleeding.  The  level  of  factor  is  directly  related  to  the  clinical  severity  of  the  disease  where  severe  disease  is  less  than  1%  activity,  moderate  disease  is  1%  to  5%,  and  mild  disease  is  greater  than  5%.  FXI  deficiency  (also  known  as  hemophilia  C),  bleeding  classically  is  not  directly  related  to  factor  level  and  occurs  several  days  after  initial  trauma  or  surgery.  Antibodies  to  factor  proteins  termed  inhibitors  occur  in  20%  to  30%  of  FVIII  patients  and  2%  to  4%  of  FIX  patients.  Inhibitor  levels  greater  than  5  Bethesda  units  (BUI)  require  the  use  of  bypassing  agents  such  as  Novoseven  (FVIIa)  and/or  FVIII  inhibitor  bypassing  activity  (FEIBA).