Factor V Leiden carriers taking oral contraceptives have an increased risk of thrombosis

Aznar, Justo; Cerdá, Germán

doi:10.1016/j.ajog.2013.02.036

Cited by 1 publication

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic testing may also be used for the identification of the FV Leiden mutation among women. Hormone therapies that primarily contain estrogens enhance the risk of thrombosis among this population [ 46 , 47 ]. Although, current guidelines consider genetic testing to identify carriers of high-risk thrombophilia are only worthwhile when the subject has a family history of venous thromboembolism [ 48 ], the identification of this deficiency could provide more information to weigh the risks and benefits of hormonal contraceptive therapy in young women and hormone replacement in menopausal women.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors

et al. 2015

View full text Add to dashboard Cite

BackgroundThe aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis (C282Y, H63D and S65C) in blood donors from Sao Paulo, Brazil.MethodsWe examined 400 blood donor samples collected from October to November 2011. The SNPs were detected using OpenArray technology. The blood samples were also examined using a real-time PCR–FRET system to compare the results and determine the accuracy of the OpenArray method.ResultsWe observed 100% agreement in all assays tested, except HFE C282Y, which showed 99.75% agreement. The HFE C282Y assay was further confirmed through direct sequencing, and the results showed that OpenArray analysis was accurate. The calculated frequencies of each SNP were FV G1691A 98.8% (G/G), 1.2% (G/A); FII G2021A 99.5% (G/G), 0.5% (G/A); MTHFR C677T 45.5% (C/C), 44.8% (C/T), 9.8% (T/T); MTHFR A1298C 60.3% (A/A), 33.6% (A/C), 6.1% (C/C); HFE C282Y 96%(G/G), 4%(G/A), HFE H63D 78.1%(C/C), 20.3% (C/G), 1.6% (G/G); and HFE S65C 98.1% (A/A), 1.9% (A/T).ConclusionTaken together, these results describe the frequencies of SNPs associated with diseases and are important to enhance our current knowledge of the genetic profiles of Brazilian blood donors, although a larger study is needed for a more accurate determination of the frequency of the alleles. Furthermore, the OpenArray platform showed a high concordance rate with standard FRET RT-PCR.

show abstract

Section: Discussionmentioning

confidence: 99%