Congenital factor V deficiency and decreased <scp>VWF</scp> in a Chinese male patient with hematuria

Coagulation factor (F) V is a glycoprotein that plays an essential role in the formation of the prothrombinase complex, which is critical for progressing clot formation. FV deficiency is a rare bleeding disorder with an estimated incidence of one per 1 million in the general population. The disorder is manifested with a wide array of clinical bleeding events. The most common bleeding features of FV deficiency are mucosal bleedings. Life-threatening manifestations are rarely seen in this disorder. FV deficiency is diagnosed using routine coagulation tests and FV activity assay. A wide spectrum of mutations including missense, nonsense, and frameshift is observed throughout the F5 gene. Although fresh frozen plasma is the dominant therapeutic choice, a newly introduced plasma-derived FV concentrate was found effective in in vitro correction of prothrombin time, activated partial thromboplastin time, and thrombin generation parameters in severe FV deficiency and should provide more targeted treatment for patients with FV deficiency in the future.

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A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient

Liu

Luo²,

Yang³

et al. 2020

Blood Coagulation &Amp; Fibrinolysis

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To explore the phenotype and genotype of a Chinese family with hereditary factor V deficiency. Routine blood coagulation indexes were detected by one-stage clotting method, whereas factor V antigen was detected by ELISA. All exons and intron–exon boundaries of F5 gene were amplified by PCR and sequenced directly. The suspected mutation was confirmed by reverse sequencing. Bioinformatics softwares were used to analyze the possible impact of this mutation. Phenotypic analysis showed that the proband had significantly prolonged prothrombin time and activated partial thromboplastin time, and his factor V clotting activity was decreased to 3%. Genetic analysis revealed a homozygous missense mutation c.5227G>A (p.Gly1715Ser) in exon 16 of F5 gene. Bioinformatics and structural analysis demonstrated this mutation was deleterious and could affect the integrity of local intermolecular structures. The missense mutation (Gly1715Ser) was responsible for the decrease of factor V clotting activity and factor V antigen in this family, and caused type I hereditary factor V deficiency.

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Congenital factor V deficiency and decreased VWF in a Chinese male patient with hematuria

Cited by 3 publications

References 10 publications

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A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency

A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient

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