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Case Reports
. 2010 Jul;21(5):474-5.
doi: 10.1097/mbc.0b013e328338db53.

Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531)--> His mutation

Shriram V Nath  1 , Vaughan K Williams, Adrian B Griffiths, Tamas Revesz
Affiliations
Case Reports

Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531)--> His mutation

Shriram V Nath et al. Blood Coagul Fibrinolysis. 2010 Jul.

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.

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