Hemophilia A With Inhibitors
Conditions
Keywords
Hemophilia A, Inhibitors
Brief summary
Existing data support the concept that a genetic predisposition for inhibitor development exists. The aim of the Malmö International Brother Study (MIBS) is to evaluate genetic factors associated with the development of inhibitory antibodies in patients with hemophilia.
Detailed description
Inhibitory antibodies to factor VIII develop in 10-15% of all patients with hemophilia A and in 25-30% of patients with the severe form of the disease after exposure to factor VIII concentrates. Both genetic and environmental risk factors for inhibitor development have been evaluated, but in most cases without consistent results. Among the genetic factors, an association between large rearrangements of the factor VIII and IX genes and a higher risk for inhibitors has been described. However, a majority of patients with null mutations, including the intron 22 inversion, do not develop inhibitory antibodies. It is obvious that other genetic markers influencing the immune response to replacement therapy in patients with hemophilia remain to be identified and the aim of Malmö International Brother Study (MIBS) is to characterize these factors.
Interventions
None listed
Sponsors
Skane University Hospital
Study design
Observational model
DEFINED_POPULATION
Time perspective
OTHER
Eligibility
Sex/Gender
MALE
Age
0 Years to No maximum
Healthy volunteers
No
Inclusion criteria
-Mild, moderate or severe hemophilia A or B and one or more brothers with mild, moderate or severe hemophilia A or B
Exclusion criteria
-Absence of sufficient information to classify inhibitor status
Countries
Sweden
Outcome results
None listed