Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531)--> His mutation.
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.
Nath
Shriram V
SV
Haematology and Oncology Department, Women and Children's Hospital, North Adelaide, South Australia, Australia. shriramnath@yahoo.com
Williams
Vaughan K
VK
Griffiths
Adrian B
AB
Revesz
Tamas
T
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*
D006639:Histidine; D005169:Factor VIII; D001120:Arginine