Aims: Hereditary as well as acquired thrombophilia is associated with a higher incidence of severe obstetric complications such as preeclampsia, spontaneous pregnancy loss, placental abruption, and fetal growth retardation. The aim of our study was to examine the association of selected thrombophilic polymorphisms (factor V Leiden, MTHFR C677T, and MTHFR A1298C) with pregnancy complications in the Slovak majority population and the Roma (Gypsy) ethnic population. The study included 354 women; 120 patients and 105 controls from the Slovak majority population, 50 patients and 79 controls from the Slovak Roma population. Genotyping was performed by the real-time polymerase chain reaction method using TaqMan(®) MGB probes.
Results: A statistically significant higher frequency of factor V Leiden (p=0.001, odds ratio [OR]=5.9) and MTHFR C677T polymorphism (p=0.011, OR=1.7) was observed in the Slovak majority patient group compared to the control group. The incidence of MTHFR A1298C polymorphism between patients and controls did not differ significantly. None of the three polymorphisms studied was in association with pregnancy complications in the group of Roma women.
Conclusions: Our study has confirmed the variable distribution of selected thrombophilic polymorphisms in different ethnic groups as well as their various effects on the clinical phenotype.
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http://dx.doi.org/10.1089/gtmb.2014.0232 | DOI Listing |
Clin Appl Thromb Hemost
August 2024
Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).
Methods: The SNPs of the following genes were investigated: (F V Leiden, rs6025), prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), (rs2289252) and (non-O, rs8176719) in both groups.
Combined thrombophilia represents 7.8-8.3% of the patients with thrombophilia and confers a higher risk for thrombosis development and recurrence.
View Article and Find Full Text PDFIndian J Hematol Blood Transfus
April 2024
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research (PGIMER), Sector 12, Chandigarh, 160012 India.
J Pers Med
April 2024
Unit of Obstetrics and Gynecology, "Paolo Giaccone" Hospital, 90127 Palermo, Italy.
Background: Despite pregnancy's hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes.
Methods: in this single-center prospective study, 105 healthy pregnant women were included.
J Clin Med
December 2023
Institute of Clinical Chemistry, University Hospital of Kiel & Lübeck, 23538 Lübeck, Germany.
Background: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage.
Patients And Methods: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants.
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