Factor V Leiden and Factor V R2 Allele: High-throughput Analysis and Association with Venous Thromboembolism

Benson, Jane M.; Ellingsen, Dorothy; El-Jamil, Muhydine; Jenkins, Meredith; Miller, Connie H.; Dilley, Anne; Evatt, Bruce L.; Hooper, W. Craig

doi:10.1055/s-0037-1616049

Cited by 21 publications

(9 citation statements)

References 14 publications

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“…Two differently labeled probes are used in genotyping, one specific for the mutant probe, and one for the normal probe. Fluorescence due to the different reporter dyes is typically measured after all PCR cycles have been completed [18].…”

Section: Methodsmentioning

confidence: 99%

The natural history of mild haemophilia: a 30‐year single centre experience

et al. 2011

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Although up to 50% of all haemophilic patients followed at haemophilia treatment centres (HTCs) are affected by a mild factor VIII (FVIII) or factor IX (FIX) defect, published data regarding the natural history of these disorders are scarce. To fill this lack of information, a retrospective single centre study was conducted. All cases with mild haemophilia (75 A and 7 B) followed at the regional reference HTC of Parma were evaluated. The patients' median age at diagnosis was 11.5 years and their median age at first bleeding was 5.5 years; 95% of patients had a history of haemorrhagic problems during their life. Twenty-three percent of patients were infected by HCV, and none by HIV. Genetic analysis was performed in 80 patients (97% haemophilia A and 100% haemophilia B) and 21 different mutations were characterized. Eleven percent of patients had never received treatment, whereas 67% were treated with plasma-derived or recombinant FVIII/FIX concentrates (4% developed inhibitors). desmopressin (DDAVP) was used in 80% of the haemophilia A patients. The response to DDAVP was closely related to the patients' genetic profile, as 60% of non-responders had a mutation in the F8 promoter region. Patients with mild haemophilia may experience a variety of medical problems, sometimes challenging for the physicians, during their lifetime. The HTCs play an important role in the management of these patients, whose diagnosis is often delayed. The HTCs should improve patients' knowledge and consideration of their disease and encourage them to maintain regular contact with their haemophilia care provider.

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Section: Methodsmentioning

confidence: 99%

The natural history of mild haemophilia: a 30‐year single centre experience

et al. 2011

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“…Another study reported evidence to support an association of the FV A4070G polymorphism with deep venous thrombosis (DVT) . Some other studies, however, suggested that there were no statistical differences in the prevalence of this polymorphism between patient and control groups .…”

Section: Discussionmentioning

confidence: 85%

Association Between Thrombophilic Gene Mutations and the Risk of Vascular Access Thrombosis in Hemodialysis Patients

Fekih-Mrissa¹,

Sayeh²,

Baffoun

et al. 2016

Ther Apher Dial

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The cause of thrombosis in hemodialysis vascular access is considered to be of a multifactorial nature, including stenosis of the venous or arterial connection. Therefore, identification of relevant thrombotic risk factors could lead to an improved antithrombotic therapy. This case control study was performed to evaluate the relationship between Factor V (G1691A and A4070G) and Factor II polymorphisms and vascular access thrombosis in hemodialysis patients. One hundred and twenty-one patients undergoing dialysis were selected as subjects. This sample was divided into two groups; a case group of 60 patients who had sustained one or more thrombotic events that resulted in vascular access failure and a control group of 61 patients, who never had a thrombotic occlusion of a functioning permanent dialysis access. Our data demonstrated a significantly increased risk of vascular access thrombosis in carriers of the mutant FV (G1691A and A4070G) polymorphisms (P < 0.05).Further studies on a large-scale population and other genetic variants will be needed to find candidate genes for vascular access thrombosis in hemodialysis patients.

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“…Studies varied greatly in the extent to which they described the population from which the participants came; only 17 studies adequately reported the setting or population from which the blood samples were obtained [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27]. Most described the experimental test adequately; 60 to 70% of the studies gave a detailed description of their reference methods.…”

Section: Resultsmentioning

confidence: 99%

“…Three studies compared Taqman 1 real-time polymerase chain reaction (PCR) to PCR-RFLP [17,32,41]. The concordance was 100% in all these studies.…”

Section: Detection Of Fvlmentioning

confidence: 99%

Analytic validity of genetic tests to identify factor V Leiden and prothrombin G20210A

et al. 2010

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The objective of this study is to systematically review methods for detecting Factor V Leiden or prothrombin G20210A. English-language literature from MEDLINE 1 , EMBASE 1 , The Cochrane Library, the Cumulative Index to Nursing and Allied Health Literature, PsycInfo , 2000-December 2008. Studies assessed methods for detection of these mutations in at least 10 human blood samples and reported concordance, discordance, or reproducibility. Two investigators abstracted data on the sample selection criteria, test operators, DNA extraction, experimental test, reference standard, commercial instruments, concordance rates, explanation of any discordance, and whether discordance resolved after repetition. We assessed strength of the evidence using the GRADE criteria. We reviewed 7,777 titles and included 66 articles. The majority of the reviewed studies used PCR-RFLP or AS-PCR as the reference standard. The studies demonstrated that commercially available and precommercial tests have high analytic validity with all having greater than 99% concordance with the reference standard. With a few exceptions, discordance resolved with repetition of the test, suggesting operator or administrative errors were responsible for the discordant results. In the quality assurance studies, greater than 98% of laboratories demonstrated high, even perfect, accuracy when asked to diagnose a sample with a known mutation. The majority of errors came from a limited number of laboratories. Although not all methods may be accurate, there is high-grade evidence that genetic tests for the detection of FVL and prothrombin G20210A have excellent analytic validity. There is high-grade evidence that most, but not all, clinical laboratories test for FVL and prothrombin G20210A accurately. Am. J. Hematol. 85:264-270, 2010. V

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Factor V Leiden and Factor V R2 Allele: High-throughput Analysis and Association with Venous Thromboembolism

Cited by 21 publications

References 14 publications

The natural history of mild haemophilia: a 30‐year single centre experience

The natural history of mild haemophilia: a 30‐year single centre experience

Association Between Thrombophilic Gene Mutations and the Risk of Vascular Access Thrombosis in Hemodialysis Patients

Analytic validity of genetic tests to identify factor V Leiden and prothrombin G20210A

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