Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G)
Rajiv K. Pruthi,
Vilmarie Rodriguez,
Cory Allen, Jeffrey A. Slaby,
Kirstin A. Schmidt,
Elizabeth A. Plumhoff,
Rajiv K. Pruthi
Special Coagulation Laboratory
Division of Hematology and Comprehensive Hemophilia Center
Search for more papers by this authorVilmarie Rodriguez
Division of Hematology and Comprehensive Hemophilia Center
Division of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, MN, USA
Search for more papers by this authorJeffrey A. Slaby
Division of Hematology and Comprehensive Hemophilia Center
Search for more papers by this authorKirstin A. Schmidt
Division of Hematology and Comprehensive Hemophilia Center
Division of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, MN, USA
Search for more papers by this authorRajiv K. Pruthi,
Vilmarie Rodriguez,
Cory Allen, Jeffrey A. Slaby,
Kirstin A. Schmidt,
Elizabeth A. Plumhoff,
Rajiv K. Pruthi
Special Coagulation Laboratory
Division of Hematology and Comprehensive Hemophilia Center
Search for more papers by this authorVilmarie Rodriguez
Division of Hematology and Comprehensive Hemophilia Center
Division of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, MN, USA
Search for more papers by this authorJeffrey A. Slaby
Division of Hematology and Comprehensive Hemophilia Center
Search for more papers by this authorKirstin A. Schmidt
Division of Hematology and Comprehensive Hemophilia Center
Division of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, MN, USA
Search for more papers by this authorRajiv K. Pruthi, MBBS, Division of Hematology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. e-mail: [email protected]
Abstract
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.
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