Resistance to activated protein C due to factor V R506Q mutation as a cause of venous thrombosis

Department of Clinical Chemistry, Lund University, University Hospital, Malmö, Sweden.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion (Impact Factor: 0.48). 06/1997; 49 Suppl 1:3-5.
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    • "Similarly, coexistence of FVL and PC deficiency has 3 to 7-fold more risk of VTE than either of the two defects alone (Hallam et al, 1995; Zama et al, 1996; Koeleman et al, 1997, Jadaon & Dashti, 2005b). Moreover, more than half of patients with both APC-R and genetic PS deficiency were found to have thrombosis (Garcia de Frutos & Dahlbäck, 1995; Koeleman et al, 1997). It is interesting to mention here that a few isolated cases were reported to be double heterozygous for FVL and factor V deficiency, the mutations being present on opposite chromosomes. "

    Venous Thrombosis - Principles and Practice, 01/2012; , ISBN: 978-953-307-885-4
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    • "APCR produces a thrombophilic state [1,2]. The combination of inherited thrombophilia and pregnancy greatly increases the risk of venous thromboembolism (VTE), which remains the commonest cause of maternal death in the developing world [3]. "
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    ABSTRACT: Activated Protein C Resistance (APCR), a poor anticoagulant response of APC in haemostasis, is the commonest heritable thrombophilia. Adverse outcomes during pregnancy have been linked to APCR. This study determined the frequency of APCR, factor V gene known and novel SNPs and adverse outcomes in a group of pregnant women. Blood samples collected from 907 pregnant women were tested using the Coatest Classic and Modified functional haematological tests to establish the frequency of APCR. PCR-Restriction Enzyme Analysis (PCR-REA), PCR-DNA probe hybridisation analysis and DNA sequencing were used for molecular screening of known mutations in the factor V gene in subjects determined to have APCR based on the Coatest Classic and/or Modified functional haematological tests. Glycosylase Mediated Polymorphism Detection (GMPD), a SNP screening technique and DNA sequencing, were used to identify SNPs in the factor V gene of 5 APCR subjects. Sixteen percent of the study group had an APCR phenotype. Factor V Leiden (FVL), FV Cambridge, and haplotype (H) R2 alleles were identified in this group. Thirty-three SNPs; 9 silent SNPs and 24 missense SNPs, of which 20 SNPs were novel, were identified in the 5 APCR subjects. Adverse pregnancy outcomes were found at a frequency of 35% in the group with APCR based on Classic Coatest test only and at 45% in the group with APCR based on the Modified Coatest test. Forty-eight percent of subjects with FVL had adverse outcomes while in the group of subjects with no FVL, adverse outcomes occurred at a frequency of 37%. Known mutations and novel SNPs in the factor V gene were identified in the study cohort determined to have APCR in pregnancy. Further studies are required to investigate the contribution of these novel SNPs to the APCR phenotype. Adverse outcomes including early pregnancy loss (EPL), preeclampsia (PET) and intrauterine growth restriction (IGUR) were not significantly more frequent in subjects with APCR compared to normal pregnant women however Pregnancy induced hypertension (PIH) was found to be associated with FVL in our study group.
    BMC Pregnancy and Childbirth 03/2010; 10(1):11. DOI:10.1186/1471-2393-10-11 · 2.19 Impact Factor
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    ABSTRACT: “...with each birth and each death we alter the genetic attributes of human populations and drawing a line around an ephemeral entity like a human race is an exercise in futility and idiocy.” —Pat Shipman, The Evolution of Racism
    Nature Genetics 12/2004; 36(11 Suppl):S43-7. DOI:10.1038/ng1439 · 29.35 Impact Factor
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