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Luigi Villa Foundation
     
   
   
   
   
   
   
     
     
     
     
     
 

 

 
 
GENETIC BASE OF THE INHIBITOR'S DEVELOPMENT IN SEVERE "A" TYPE HEMOPHILIA
 
 

At present, the therapy of the hemophilia A is based on a substitutive treatment consisting of intravenous administration of concentrates of FVIII. The development of inhibitor antibodies, which neutralize the infused FVIII, currently represents the main complication of the therapy of hemophilia, making in some cases the substitutive treatment completely ineffective.
The factors facilitating the development of the inhibitor antibodies could be linked with the therapy (e.g. blood transfusion) or the patient (e.g. age, type of the mutation that caused hemophilia, activation of the immunity system).

The aims of this project are:
  - investigating the correlation between the type of the mutation and the risk of the inhibitor's development.
   
  - studying the role of the gene involved in the immune response, such as class I and II MHC, in the development of the inhibitor.
 
We expect that the results of this project will help us understand the molecular mechanisms that cause the development of the inhibitor, making thus possible to predict the risk of its occurrence depending on the therapy administered to an individual with certain known molecular flaws.
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