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November 1, 2025American Journal of Clinical PathologyOpen Access

445 Hemophilia A: when the bleeding patient looks worse than lab testing would indicate

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Authors

ARAlexandra RuszLLLuke LiTGTheodore Gabig

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Overview

Case report reveals discrepancies in factor VIII testing in hemophilia A, suggesting genotyping may elucidate bleeding severity.

Key Points

  • To understand the relationship between FVIII activity and bleeding severity in a hemophilia A patient with a specific mutation.
  • Case report of a 22-year-old male with mild hemophilia A
  • Analysis of FVIII activity levels through one-stage assay and chromogenic substrate assay
  • Genotyping to identify the Arg531His mutation
  • Patient presented with worsening hematoma despite FVIII activity showing levels of 39-43%
  • Discrepancy between one-stage assay and chromogenic substrate assay results observed
  • Mutation associated with mild phenotype but inconsistent FVIII activity with clinical bleeding severity

Cite This Study

Rusz et al. (2025) studied this question.

synapsesocial.com/papers/6925436cc0ce034ddc3586bahttps://doi.org/10.1093/ajcp/aqaf121.223
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Default one-stage assay for hospitalized hemophilia A patients: A cautionary tale2025
  2. 2Combined factor v and VIII deficiency: A mucocutaneous bleeding phenotype driven predominantly by factor VIII – a retrospective study of 34 patients2025
  3. 3One-stage Assay Factor VIII Activity Reflects AAV-Derived Factor VIII-Enhanced Thrombin Activation and Predicts Phenotype2026
  4. 4PO47 | Hemophilia A and antithrombin deficiency: a case of natural hemostatic rebalancing2025
  5. 5Chromogenic Assay : A Critical Diagnostic Tool for Accurate Diagnosis of Severe Hemophilia A2024