P0335 Thrombophilia. Factor V Leiden, Prothrombin G2010A and MTHFR C677T: Descriptive Analysis in the Area 7 (original) (raw)
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Iranian Journal of Blood and Cancer, 2019
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out in 312 patients with venous thrombosis who were referred to "Thrombosis Clinical center", Imam Khomeini Hospital, Tehran, Iran and "Sarvar Clinic", Mashhad, Iran. Identification of gene mutations was performed using PCR-restriction fragment length polymorphism (RFLP)-based method. Results: The prevalence of Factor V Leiden mutation was 35.8%, while 8.9% of them were homozygous for AA allele and 26.9% had the GA allele in heterozygous state. The prevalence of MTHFR (C677T) mutation was 17.9% of which 7.1% had the TT mutant allele in homozygous and 10.8% had CT allele in heterozygous state. The prevalence of mutation in prothrombin gene G20210A was 8.9% with all cases heterozygous for GA mutant allele. Conclusion: In our study from two referral centers for thrombotic disorders, the prevalence of mutations in gene encoding factor V Leiden was higher than Prothrombin 20210A and MTHFR C677T polymorphisms. Therefore, assay for factor V Leiden mutation has the first priority in the evaluation of patients with hereditary thrombophilia in these geographical regions.
Hippokratia, 2015
BACKGROUND Factor V Leiden (FVL), prothrombin gene (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms are the main biomarkers used in the evaluation of tendency to venous thromboembolism. Our study aimed to investigate the distribution frequencies of these polymorphisms in healthy Turks living in the urban Yozgat region. MATERIAL AND METHODS This study included 90 blood donor candidates. All the donors were apparently healthy, and there was no family relationship between them. Mutations including FVL, PT G20210A, and MTHFR (C677T, A1298C) were investigated in all participants. Screening of polymorphisms was carried out using the SNaPshot® multiplex system. RESULTS There were 42 male and 48 female individuals with age range 17-78 years and mean age 47.5 ± 13.6 years. The heterozygous FVL mutation was noted in 17 (10 male and seven female) donors (19%). FVL mutation was more frequently encountered in males than in females (23.8% vs. 12.5%). The heterozyg...
HVM Bioflux, 2014
The prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations were investigated among 87 Saudi sickle cell disease (SCD) patients (38 males and 49 females) and 105 healthy controls (65 males and 40 females). The prevalences of factor V Leiden (P = 0.174) and PRT G20210A (P = 0.397) were not different between patients and controls, thereby giving no support to an association of either single-point mutation with SCD. However, an increased prevalence of the MTHFR 677 T/T genotype was seen among patients (8/87) compared to controls (4/105), but this was not statistically significant (P = 0.217; OR = 2.56). This suggested a low impact of inherited hypercoagulability risk factors in the pathogenesis of SCD and/or its complications. Am.
Croatian medical journal, 2001
AIM To determine the prevalences of factor V Leiden and the G20210A mutation in the prothrombin gene (PT20210A) and the frequency of their association in healthy subjects and in patients with venous thromboembolism (VTE). METHOD We studied 160 Croatian patients with at least one episode of VTE and 155 healthy subjects as a control group. Genomic DNA was extracted according to standard procedures and the presence of factor V Leiden and PT20210A were determined by polymerase chain reaction-restriction fragment length polymorphism method. RESULTS The prevalences of factor V Leiden and PT20210A were in VTE patients 21% and 8% respectively, and 4% in controls for both mutations. Additionally, 4 patients were affected by double heterozygous defects, corresponding to a frequency of 3%, whereas none of the controls were double heterozygotes. The coexistence of the PT20210A in heterozygous carriers of factor V Leiden was 15% in VTE group. The results obtained for different subgroups of VTE p...
Revista Romana de Medicina de Laborator, 2016
Objective: The present case-control study aimed at evaluating the contribution of thrombophilic polymorphisms to acute venous (VTE) as well as arterial thrombotic events (ATE) in a population of young women with few traditional thrombotic factors (CVRF).Methods: We consecutively enrolled patients under 45 years of age, with less than 3 CVRF, evaluated for VTE or ATE, women and men as a comparator. The control group consisted of healthy young women. A thrombophilia panel and genetic testing for Factor V Leiden (FVL), G20210A Prothrombin and MTHFR polimorphisms were done.Results: A total of 323 persons were enrolled: 71 women and 121 men with thromboembolic events, and 131 healthy female as controls. Hyperhomocysteinemia was more frequent in ATE (30.4%) than VTE female patients (6.25%), p<0.01. Genetic testing was available in 45 women and 84 men with acute thrombotic events and in all controls. Homozygous FVL was associated with VTE in young women (10.3% vs 0% controls, p<0.01)...
Factor V Leiden and Prothrombin G20210A Mutations Among Healthy Indians in Malaysia: Table 1
Labmedicine, 2010
Background: Factor V Leiden (FVL) (G1691A) and prothrombin gene (G20210A) mutations are the 2 most common inherited forms of thrombophilia. The prevalence of these 2 mutations is known to show a distinct world distribution and is most prevalent among Caucasians. Previous studies report that these mutations are rare among other populations including Malays and Chinese. The aim of this study was to determine the frequency of FVL and prothrombin gene mutations among healthy Indians in Malaysia without a family history of venous thrombosis. Materials and Methods: DNA from 71 apparently healthy Indians was analyzed for the detection of FVL and prothrombin gene mutations, using PCR-RFLP with MnlI and allele-specific PCR respectively. Results: Out of the 71 samples analyzed, 4 were heterozygous (5.6%) for FVL mutation while no homozygous FVL mutation was detected. Prothrombin gene mutation was totally absent among our subjects. Conclusion: Factor V Leiden mutation in this region probably gives different clinical outcomes, suggesting the need for future studies on FVL and environmental interactions.
Asian Journal of Biochemistry, Genetics and Molecular Biology
Aim: To study the prevalence of major mutations associated with Venous thromboembolism (VTE) in referred individuals at Gujarat. Place and Duration of Study: PanGenomics International, Sterling Accuris Diagnostics, Ahmedabad, Gujarat, India between June 2020 to December 2021. Methodology: 121 individuals referred for thrombosis genetic test were included in the study. Among 121 subjects, 71 were male and 50 were female. SNP genotyping was performed with melt curve analysis and confirmed with sanger sequencing. Results: Highest prevalent SNP was of MTHFR A1298C with allelic frequency of 36.78%. Factor V and MTHFR SNP allelic frequency was comparable to previous studies. Absence of Factor II mutant allele in the studied population was inconsistent with the population from other countries but supports previous studies with Indian population. Minor allele frequency for MTHFR A1298C mutation was high as 36.78% and C677T mutation was 13.22%. Factor V Leiden R506Q allele frequency was 2.89...
European journal of haematology, 2016
The risk of thrombosis in individuals with rare compound thrombophilias, homozygous Factor V Leiden (FVL) plus heterozygous prothrombin G20210A (PTM), homozygous PTM plus heterozygous FVL, and homozygous FVL plus homozygous PTM is unknown. We identified, worldwide, individuals with these compound thrombophilias, predominantly through mailing members of the International Society on Thrombosis and Haemostasis. Physicians were sent a clinical questionnaire. Confirmatory copies of the genetic results were obtained. One hundred individuals were enrolled; 58% female. Seventy-one individuals had a venous thrombosis (includes superficial and deep vein thrombosis, and pulmonary embolism), 4 had an arterial thrombosis and 6 had both. Nineteen individuals had never had a thrombotic event. Thrombosis-free survival curves demonstrated that 50% of individuals had experienced a thrombotic event by 35 years of age, while 50% had a first venous thromboembolic event (VTE; includes all venous thrombos...