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Maria Stella Graziani

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Martina Zaninotto

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Giuseppe Agosta

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Arianna Lucini Paioni
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email: biochimica.clinica@sibioc.it



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BC: Articoli scritti da F. Gessoni

Discordance between phenotype and genotype study in Factor V Leiden carriers: a real life experience
<p>Factor V Leiden (FVL) mutation causes activated protein C (APC) resistance by decreasing the susceptibility of FVa&nbsp;to APC-mediated inactivation. In our Laboratory, the usual approach to the identification of FV deficit includes a&nbsp;combination of genetic and functional tests. The aim of this paper was to highlight the importance to investigate both&nbsp;the genotype and the phenotype in the diagnosis of FVL-APC resistance related thrombophilia. Among a group of&nbsp;292 subjects examined for thrombophilia, we observed three patients with discordant results of genetic test for the&nbsp;detection of G1691A FV gene mutation and functional APCr assay: the first subject has a mild APC resistance with&nbsp;a wild type genotype; the second one, and her sister, shows a severe APC resistance with a heterozygous genotype.&nbsp;To determine the FV deficit, it is important to associate the molecular analysis of G1691A mutation with the APC&nbsp;resistance test.</p>
Biochimica Clinica ; 40(3) e22-e26
Casi clinici - Case report