Case 76 – update 3

Our patient is started on recombinant factor VIII replacement and achieves a trough level of 100%. Neurosurgery is not required. Genetic samples are sent to examine the F8 gene to see where the mutation is as this can help investigate other family members and can also predict inhibitor formation.

 

‘Inhibitors’ are alloantibodies against the VIII replacement rendering them ineffective and therefore cause major interference with treatment of haemophilia when they occur.

 

Here is the family tree of our patient:

Haemophilia family tree

 

Questions

  • What increases the risk of inhibitor formation?
  • Which relatives would you be keen to counsel and test?

 

Please reply to us (@TeamHaem) on Twitter and always include #TeamHaem to allow others to follow your comments. Please join in the debate and learn about haematological problems along the way. The case will continue to  evolve over the coming week so keep checking #TeamHaem on Twitter for more information.

Please note – all cases on TeamHaem are entirely fictional to protect patient confidentiality.

TeamHaem are not a position of authority.  It is an educational platform to allow discussion and learning.

About TeamHaem

Online education and discussion about all things haematological
This entry was posted in Inherited bleeding, Paediatric haematology and tagged , , , , , , , , , . Bookmark the permalink.