title: Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531)--> His mutation.
abstract: Routine screening of infants born to known hemophilia carriers includes a factor VIII (FVIII) level. In routine practice, mild FVIII deficiency variants may be missed by laboratories that exclusively use a one-stage activated partial thromboplastin time-based activity assay. This case illustrates such a possibility with a discrepancy between the one-stage and two-stage assays performed on a child who carries the Arg(531) --> His mutation.
authors.affiliation: Haematology and Oncology Department, Women and Children's Hospital, North Adelaide, South Australia, Australia. shriramnath@yahoo.com
authors.forename: Shriram V
authors.initials: SV
authors.lastname: Nath
authors.forename: Vaughan K
authors.initials: VK
authors.lastname: Williams
authors.forename: Adrian B
authors.initials: AB
authors.lastname: Griffiths
authors.forename: Tamas
authors.initials: T
authors.lastname: Revesz
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics*; D002648:Child; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*
chemical_list: D006639:Histidine; D005169:Factor VIII; D001120:Arginine