3B10.1
Hereditary factor VIII deficiency with anti-factor VIII inhibitor
Deficiência hereditária do fator VIII com inibidor anti-fator VIII
CategoryDefinition
A disease caused by a genetically inherited mutation leading to a deficiency in clotting due to lack of factor VIII. This disease also causes anti-factor VIII inhibitor antibodies to be produced when receiving transfusions. Anti-factor VIII inhibitor antibodies develop as the body recognises the factor VIII as foreign, therefore deeming factor VIII infusions ineffective. This disease is characterised by increasing haemorrhaging and bruising. Confirmation is by identification of mutations by genetic testing.
Index Terms
Hereditary factor VIII deficiency with anti-factor VIII inhibitor