ABSTRACT
We present the hemostatic management of severe hemophilia A of an infant with high risk of inhibitor development who underwent cardiac surgery for correction of tetralogy of Fallot. Continuous infusion of recombinant factor VIII resulted in good hemostasis during surgery and postoperatively. Unfortunately, the patient had inhibitor development 2 months after cardiothoracic surgery. Although cardiac surgery is successful, exposure to factor concentrates in severe hemophilia early in life might predispose a patient to inhibitor development.
Subject(s)
Cardiac Surgical Procedures , Factor VIII/administration & dosage , Hemophilia A/complications , Hemostasis, Surgical , Tetralogy of Fallot/surgery , Factor VIII/analysis , Factor VIII/antagonists & inhibitors , Hemophilia A/blood , Humans , Infant , Infusions, Intravenous , Male , Recombinant Proteins/administration & dosage , Tetralogy of Fallot/complicationsABSTRACT
Congenital factor VII (FVII) deficiency is an autosomal recessive bleeding disorder with variable phenotypic correlation between FVII activity and bleeding risk. We report a novel mutation of the FVII gene that creates the amino acid change Ser 103 to Gly, which resulted in severe FVII deficiency with reduced FVII antigen. This mutation in the heterozygous form was also present in a mildly affected, unrelated patient. We also report on the natural history of an FVII inhibitor in the patient with severe FVII deficiency.
