title: Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation.
abstract: Certain mutations in mild haemophilia A have been associated with a greater risk of inhibitor development, especially when associated with intense treatment. We present a patient with both mild haemophilia A and Arg531Cys mutation, which developed lowtitre inhibitors and was not seen to be related to the intense substitute treatment. The inhibitor has a greater effect on the exogenous factor VIII, permiting an adequate response to treatment with desmopressin. A discrepancy exists in the factor VIII activity in this our patient and in the haemophiliacs of another two families with the same mutation when determination is performed with one-stage or chromogenic method.
authors.affiliation: Congenital Coagulopathy Unit, La Fe University Hospital, Valencia, Spain. cid_ana@gva.es
authors.forename: A R
authors.initials: AR
authors.lastname: Cid
authors.forename: P
authors.initials: P
authors.lastname: Casaña
authors.forename: N
authors.initials: N
authors.lastname: Cabrera
authors.forename: S
authors.initials: S
authors.lastname: Haya
authors.forename: V
authors.initials: V
authors.lastname: Cortina
authors.forename: J A
authors.initials: JA
authors.lastname: Aznar
mesh_terms: D000906:Antibodies / Q000378:metabolism*; D000917:Antibody Formation / Q000276:immunology; D019774:Blood Coagulation Factor Inhibitors / Q000276:immunology; D002863:Chromogenic Compounds; D019411:Clinical Laboratory Techniques / Q000592:standards; D005169:Factor VIII / Q000276:immunology*; D006467:Hemophilia A / Q000188:drug therapy / Q000276:immunology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012015:Reference Standards
chemical_list: D000906:Antibodies; D019774:Blood Coagulation Factor Inhibitors; D002863:Chromogenic Compounds; D005169:Factor VIII