Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the
            <i>F8</i>
            gene

Castaman, Giancarlo

doi:10.3324/haematol.2017.186353

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…12 As a consequence, the combination of mRNA splicing and protein alterations shapes a significant but still underestimated proportion of HA phenotypes, as previously demonstrated for the relatively frequent HAcausing variant (c.6046C>T [p.Arg2016Trp]) located in F8 exon 19. 13,14 In this context, particularly in consideration of the high number of reported variants, computational tools are commonly exploited to predict the combined effects on mRNA splicing and protein function. 15,16 However, predictions are not completely accurate, 17,18 which makes the experimental investigation to validate and refine the in silico output extremely important.…”

Section: Introductionmentioning

confidence: 99%

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

Lombardi

Leo

Merlin

et al. 2021

The American Journal of Human Genetics

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Section: Introductionmentioning

confidence: 99%

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

Lombardi

Leo

Merlin

et al. 2021

The American Journal of Human Genetics

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Treatment of congenital coagulopathies, from biologic to biotechnological drugs: The relevance of gene editing (CRISPR/Cas)

De Pablo-Moreno,

Miguel-Batuecas,

Rodríguez-Merchán

et al. 2023

Thrombosis Research

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Discrepant Hemophilia A: An Underdiagnosed Disease Entity

Al-Huniti

Sharathkumar

Krantz

et al. 2020

American Journal of Clinical Pathology

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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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Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene

Cited by 3 publications

References 11 publications

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

Treatment of congenital coagulopathies, from biologic to biotechnological drugs: The relevance of gene editing (CRISPR/Cas)

Discrepant Hemophilia A: An Underdiagnosed Disease Entity

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