Related Experiment Video
Updated: Jun 11, 2026
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
Discrepancy in factor VIII 1-stage/2-stage activity in a child with Arg(531)--> His mutation
Shriram V Nath1, Vaughan K Williams, Adrian B Griffiths
1Haematology and Oncology Department, Women and Children's Hospital, North Adelaide, South Australia, Australia. shriramnath@yahoo.com
Insights
Mild factor VIII (FVIII) deficiency in infants may be missed by standard lab tests. A case study highlights the need for advanced assays to detect FVIII variants, like the Arg(531)-->His mutation, in carrier screening.
Area of Science:
- Hematology
- Pediatric Medicine
- Clinical Diagnostics
Background:
- Routine screening of infants born to hemophilia carriers involves assessing factor VIII (FVIII) levels.
- Standard laboratory practices often rely on one-stage activated partial thromboplastin time (aPTT)-based assays for FVIII activity.
- These assays may not detect all mild FVIII deficiency variants, potentially leading to missed diagnoses.
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.
Related Concept Videos
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
01:35Pedigree Analysis