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Discrepant Hemophilia A: An Underdiagnosed Disease Entity
Journal article   Open access   Peer reviewed

Discrepant Hemophilia A: An Underdiagnosed Disease Entity

Ahmad Al-Huniti, Anjali Sharathkumar, Michelle Krantz, Karla Watkinson and Sharathkumar Bhagavathi
American journal of clinical pathology, Vol.154(1), pp.78-87
06/08/2020
DOI: 10.1093/ajcp/aqaa024
PMID: 32232366
url
https://doi.org/10.1093/ajcp/aqaa024View
Published (Version of record) Open Access

Abstract

Abstract Objectives The term discrepant hemophilia A (DHA) denotes the discrepancy between factor VIII activity (FVIII:C) measured by different assay methodologies in patients with nonsevere hemophilia A (HA). The objective was to review the characteristics and the current understanding of mechanisms contributing to assay discrepancy in DHA. Methods Characteristics of the DHA patients treated were examined by retrospective chart review. In addition, a literature review was performed to determine the current understanding of DHA. Results Three cases of DHA were diagnosed based on bleeding phenotype: 2 cases represented missed diagnoses of HA, and 1 represented misclassification of hemophilia severity. The revised diagnosis and classification of hemophilia directly affected clinical management. Review of the literature identified 18 articles with an estimated pooled prevalence of 36% (95% CI, 23%-56%; I2 = 85%; P < .01) among nonsevere HA. Furthermore, literature indicated that DHA is a feature of how different FVIII gene mutations affect FVIII:C activity within different assay methodologies. Conclusions Our experience and literature review suggested that DHA is not only a laboratory phenomenon—it can affect clinical management in a subset of patients. A high index of suspicion for DHA is necessary while evaluating bleeding patients and/or classifying nonsevere HA.

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