prothrombin gene
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2021 ◽  
Author(s):  
Luz Casique-Bocanegra ◽  
Aranzazu Rodríguez-Garrote ◽  
Gaisha Danabayeva ◽  
Javier Alonso-Díaz ◽  
Noelia Diez-Martín ◽  
...  

Abstract Venous thromboembolic disease is a complex and multifactorial pathology, the result of the interaction of both genetic and environmental factors. The Virchow triad, first described in 1859, is still valid to explain the pathogenesis of thrombosis, where three main factors are reflected: a) hypercoagulable state; b) impaired blood flow; c) endothelial injury. The outbreak of a new COVID-19 pandemic has led to drastic confinement measures, with the consequent syndrome of immobility, as occurred in Spain between the months of March to June 2020. Pregnancy and hormonal contraception have proven to be an environmental factor predisposing to venous thrombosis. The presence of genetic factors, such as the mutation of the prothrombin gene G20210A, has been shown to be a risk factor for the presentation of venous thrombosis. We present the case of a 23-year-old non-smoking woman, a heterozygous carrier of a prothrombin gene mutation G20210A (hypercoagulability), who after confinement due to COVID-19 (impaired blood flow due to immobility) and use of hormonal patch contraceptives (endothelial abnormality), triggered deep vein thrombosis (DVT) / pulmonary thromboembolism (PE) that required hospital admission; and who, after rapid withdrawal of anticoagulant treatment, presented a second and a third episode of DVT. We highlight the usefulness of evaluating risk factors in G20210A heterozygous patients and the proper management of anticoagulation to avoid recurrences in patients susceptible to DVT / PE.


2021 ◽  
Author(s):  
Luz Casique-Bocanegra ◽  
Aranzazu Rodríguez-Garrote ◽  
Gaisha Danabayeva ◽  
Javier Alonso-Díaz ◽  
Noelia Diez-Martín ◽  
...  

Abstract Venous thromboembolic disease is a complex and multifactorial pathology, the result of the interaction of both genetic and environmental factors. The Virchow triad, first described in 1859, is still valid to explain the pathogenesis of thrombosis, where three main factors are reflected: a) hypercoagulable state; b) impaired blood flow; c) endothelial injury. The outbreak of a new COVID-19 pandemic has led to drastic confinement measures, with the consequent syndrome of immobility, as occurred in Spain between the months of March to June 2020. Pregnancy and hormonal contraception have proven to be an environmental factor predisposing to venous thrombosis. The presence of genetic factors, such as the mutation of the prothrombin gene G20210A, has been shown to be a risk factor for the presentation of venous thrombosis. We present the case of a 23-year-old non-smoking woman, a heterozygous carrier of a prothrombin gene mutation G20210A (hypercoagulability), who after confinement due to COVID-19 (impaired blood flow due to immobility) and use of hormonal patch contraceptives (endothelial abnormality), triggered deep vein thrombosis (DVT) / pulmonary thromboembolism (PE) that required hospital admission; and who, after rapid withdrawal of anticoagulant treatment, presented a second and a third episode of DVT. We highlight the usefulness of evaluating risk factors in G20210A heterozygous patients and the proper management of anticoagulation to avoid recurrences in patients susceptible to DVT / PE.


2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Maria Khan ◽  
Chaudhry Altaf ◽  
Hamid Saeed Malik ◽  
Muhammad Abdul Naeem ◽  
Aamna Latif

Background. Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of inherited thrombophilia cannot be ignored. In view of this, we have evaluated all patients with venous thromboembolism for inherited thrombophilia. Objective. To evaluate the frequencies of antithrombin (AT) deficiency, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations in patients harboring venous thromboembolism. Materials and Methods. A study comprising of 880 patients who were presented with manifestations of venous thromboembolism was conducted from July 2016 to June 2017. A blood sample collected from patients was screened for thrombophilia defects encompassing AT, protein C and S deficiencies, Factor V Leiden, and prothrombin gene mutations. All acquired causes of thrombosis were excluded. Results. Of 880 patients who underwent screening for thrombophilia, 182 patients demonstrated VTE history. Their age ranged from 1 to 58 years. Males constituted a predominant group. About 45 (24.7%) patients had evidence of heritable thrombophilia. Of these, 20 (10.9%) had AT deficiency, 9 (4.9%) had Factor V Leiden mutation, 6 (3.2%) had protein C deficiency, whereas protein S deficiency and prothrombin gene mutation both were found in 5 (2.7%) patients. Conclusion. Our study illustrated the highest frequency of antithrombin deficiency among other investigated thrombophilia defects.


Cureus ◽  
2021 ◽  
Author(s):  
Jaskamal Padda ◽  
Khizer Khalid ◽  
Ayushi Mohan ◽  
Sindhu Pokhriyal ◽  
Nitya Batra ◽  
...  

2021 ◽  
Vol 14 (6) ◽  
pp. e243337
Author(s):  
Jennifer Ann Ogilvie ◽  
Ahmed Iraqi ◽  
Christopher Haas ◽  
Raman Bharaj

Infliximab, an antitumour necrosis factor alpha (TNF-alpha)agent, is a cornerstone of treatment of inflammatory bowel disease with a favourable and well-tolerated side effect profile. While the majority of side effects associated with infliximab have been well established, the pathophysiology of infliximab-associated thrombosis remains controversial and poorly defined. We present a case of a young woman with ulcerative colitis who presented with a right ventricular thrombus and bilateral pulmonary emboli after initiation of infliximab and was subsequently found to have underlying factor V Leiden and prothrombin gene mutation. Clinicians should be aware of this potential adverse event associated with anti-TNF agents, especially in individuals with predisposing prothrombotic mutations such as factor V Leiden or prothrombin gene mutation.


Author(s):  
Eman M. Mansory ◽  
Pratibha Bhai ◽  
Alan Stuart ◽  
Lori Laudenbach ◽  
Bekim Sadikovic ◽  
...  
Keyword(s):  

2021 ◽  
Author(s):  
Aslihan Kiraz ◽  
Seda Guzeldag ◽  
Esma Eren ◽  
Musa Goksu ◽  
Arslan Bayram

Aim: This study aimed to investigate the relationship between severe novel coronavirus pneumonia (NCP) and hypercoagulable conditions that predispose patients to thrombosis such as the prothrombin gene ( F2) rs1799963 (G20210A), factor V Leiden ( F5) rs6025 (G1691A) and PAI-1 (rs1799768). Patients: NCP-diagnosed 62 previously healthy patients were enrolled for the investigation of the thrombophilia-related polymorphisms. Materials & methods: The frequency of genotypes were compared with healthy control group frequencies from other studies. Results: There were no statistically significant differences between the severe patient group and the healthy population regarding the investigated single nucleotide polymorphisms (SNPs). Conclusion: This study is the first to rule out the relationship of rs1799963, rs6025 and rs1799768 with severe NCP.


Author(s):  
Sidra Asad Ali ◽  
Bushra Moiz ◽  
Lumaan Sheikh

Abstract Objective: To determine the association of Factor V Leiden / prothrombin gene mutation in Pakistani women with adverse pregnancy outcomes. Method: The prospective study was conducted at the Aga Khan University Hospital, Karachi, from January 1 to December 31, 2016, and comprised females ?40 years having history of two or more foetal losses with no apparent aetiology. Restriction fragment length polymorphism- Polymerase chain reaction was performed using MnlI and HindIII restriction enzymes for factor V Leiden G1691A and prothrombin gene mutation G20210A. Females with two or more consecutive normal pregnancies were enrolled as the control group. Data was analysed using SPSS 19. Results: Of the 172 participants with a mean age of 29.3±5.9 years (range: 19-38 years). 86(50%) each were healthy controls and those with recurrent pregnancy loss. There were 238 livebirths among the controls compared to 13 in the other group. Factor V Leiden G1691A was identified in 2(2.3%) women, and prothrombin gene mutation G20210A in 1(1.2%) woman in the patient group, while no mutation was identified in the control group. Conclusion: The prevalence of Factor V Leiden / prothrombin gene mutation in women with recurrent pregnancy loss was found to be very low. Continuous....


2021 ◽  
Vol 75 ◽  
pp. 116-121
Author(s):  
Ewelina Łazarczyk ◽  
Magdalena Pasińska ◽  
Katarzyna Osmańska-Załuska ◽  
Olga Haus

Approximately 15–25% of pregnancies end in spontaneous abortion, which is an expulsion from the mother body of the fetus weighing less than 500 g or before the 20th week of gestation. Determining abortions etiology is difficult due to its multifactorial character. Chromosomal abnormalities cause 38.6–80% of miscarriages. The largest group (93%) of chromosomal aberrations found in miscarried fetuses are numerical changes – aneuploidies and polyploidies. Much rarer (7%) are unbalanced structural aberrations, which can arise de novo or can be inherited from a carrier parent. In couples with spontaneous abortions, reciprocal chromosomal translocations (RCT) occur the most frequently, next are Robertsonian translocations and inversions. More complex chromosome abnormalities, e.g. double aneuploidies are found in 3.8% of fetuses. Another group of causes responsible for abortions are monogenic diseases of embryo or fetus resulting from autosomal dominant, autosomal recessive or X-linked mutations. Among mutations which may contribute to pregnancy loss are factor V Leiden gene mutations (c.1601G>A, earlier 1691G>A) and prothrombin gene mutation (c.97G>A, earlier 20210G>A). The research on mutations in candidate genes, eg.: ALOX15, CR1, CYP1A1, CYP17, CYP2D6, FOXP3, HLA-G, IL-6, KHDC3L, NLRP7, NOS3, PLK4, SYCP3, TLR3, TNF, TP53 and VEGFA is still ongoing.


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