Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531) -> His mutation
Date
2010
Authors
Nath, S.
Williams, V.
Griffiths, A.
Revesz, T.
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Journal article
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Blood Coagulation and Fibrinolysis, 2010; 21(5):474-475
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Shriram V. Nath, Vaughan K. Williams, Adrian B. Griffiths and Tamas Revesz
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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 Arg531!His mutation.
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© 2010 Wolters Kluwer Health | LippincottWilliams & Wilkins