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thrombophilia genetics

Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki
In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals...
2016: Thrombosis Journal
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
Zsuzsanna Bereczky, Réka Gindele, Marianna Speker, Judit Kállai
Venous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use...
April 2016: EJIFCC
Cristina Hotoleanu
Genetic risk factors predispose to thrombophilia and play the most important etiopathogenic role in venous thromboembolism (VTE) in people younger than 50 years old. At least one inherited risk factor could be found in about half of the cases with a first episode of idiopathic VTE.Roughly, genetic risk factors are classified into two main categories: loss of function mutations (such as deficiencies of antithrombin, protein C, protein S) and gain of function mutations, (such as prothrombin mutation G20210A, factor V Leiden)...
September 17, 2016: Advances in Experimental Medicine and Biology
Vandana Rai
The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was implicated to be associated with thrombophilia due to its role in catalyzing the formation of 5-methylenetetrahydrofolate, a co-substrate for the conversion of homocysteine to methionine. Several case-control studies were investigated MTHFR C677T polymorphism as risk for recurrent pregnancy loss (RPL). These studies rendered contradictory results, some indicating that the polymorphism is associated with the risk of RPL whereas others concluded there is no association...
October 2016: Indian Journal of Clinical Biochemistry: IJCB
Mario Giuffrè, Clelia Lo Verso, Gregorio Serra, Giovanni Moceri, Marcello Cimador, Giovanni Corsello
Objective This report discusses the role of both congenital and acquired risk factors in the pathogenesis of portal vein thrombosis (PVT). Study Design We describe the clinical management and treatment of PVT in a preterm newborn with a homozygous mutation of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) genes and sepsis by Candida parapsilosis. Results Although literature data suggest a minor role of genetic factors in thrombophilia in the case of only one mutation, we hypothesize that combined thrombophilic genetic defects may have a cumulative effect and significantly increase the thrombotic risk...
September 2016: American Journal of Perinatology
Hatip Aydin, Resul Arisoy, Ali Karaman, Emre Erdoğdu, Arda Çetinkaya, Bilge B Geçkinli, Hasan Şimşek, Oya Demirci
BACKGROUND/AIM: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown. MATERIALS AND METHODS: In this study, we compared serum folate, vitamin B12, and homocysteine levels, along with common thrombophilia-related genetic variations, including factor V Leiden, factor II g...
2016: Turkish Journal of Medical Sciences
Magdalena Barlik, Agnieszka Seremak-Mrozikiewicz, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska, Zdzisław Łowicki, Hubert Wolski
BACKGROUND: Polymorphisms which are presented below may be the cause of inherited thrombophilia and may result in pregnancy loss. The hypothesis is based on a number of cardiology studies which have confirmed the involvement of these polymorphisms in thrombotic incidents. OBJECTIVES: To evaluate the role of polymorphisms of factor VII gene (Arg353Gln, -122T > C) and PAI-1 gene (-675 4G/5G) in the etiology of recurrent miscarriage. MATERIAL AND METHODS: The study group included 152 women with a positive history of ≥ 2 consecutive pregnancy losses (114 and 38 women with 2 and ≥ 3 miscarriages, respectively), while 180 healthy women were recruited as controls...
2016: Ginekologia Polska
João Vilhena, Henrique Vicente, M Rosário Martins, José M Grañeda, Filomena Caldeira, Rodrigo Gusmão, João Neves, José Neves
Thrombophilia stands for a genetic or an acquired tendency to hypercoagulable states that increase the risk of venous and arterial thromboses. Indeed, venous thromboembolism is often a chronic illness, mainly in deep venous thrombosis and pulmonary embolism, requiring lifelong prevention strategies. Therefore, it is crucial to identify the cause of the disease, the most appropriate treatment, the length of treatment or prevent a thrombotic recurrence. Thus, this work will focus on the development of a diagnosis decision support system in terms of a formal agenda built on a logic programming approach to knowledge representation and reasoning, complemented with a case-based approach to computing...
August 2016: Journal of Biomedical Informatics
N A Sun, Peng Cheng, Dong-Hong Deng, Rong-Rong Liu, Yong-Rong Lai
Reports of recurrent thromboembolism in thalassemia, particularly in hemoglobin H (HbH) disease associated with congenital thrombophilic mutations, are scarce. However, several mutations were detected in a 22-year-old woman with HbH disease. The patient experienced the first thrombotic event at the age of 20 years and had four recurrent thromboses in a short time interval, despite receiving anticoagulant treatment. The present study reports a case with six nucleotide substitutions, including a missense 565C>T (Arg189Trp) mutation and two synonymous mutations, 66T>C (Pro22Pro) and 423G>T (Ser141Ser), identified in the protein C gene...
July 2016: Biomedical Reports
Nadia Arabkhazaeli, Kasra Ghanaat, Mohammad Bagher Hashemi-Soteh
BACKGROUND: Recurrent pregnancy loss (RPL) is caused by different factors, including genetics and thrombophilia. Beside Factor V Leiden, another nucleotide change in a factor V (FV) gene (A4070G; His1299Arg) has been identified linking to hereditary thrombophilia. Also, two proposed MTHFR polymorphisms, C677T and A1298C (Glu429A) are linked with RPL. OBJECTIVE: In this study, the effect of two factors, A4070G in FV and A1298C in MTHFR are evaluated in RPL patients from Mazandaran province, Iran...
May 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
Xiaoli Cheng, Mingshan Wang, Minghua Jiang, Pravin A Bhugul, Xiuping Hao, Lihong Yang
Hereditary protein C (PC) deficiency and congenital plasminogen (PLG) deficiency are both factors of thrombophilia which were caused by PC and PLG gene mutations with the characteristics of activity and antigen decreasing inconsonantly. To illustrate the connection between gene mutations and the corresponding deficiencies of PC and PLG, we studied two related cases. The proband 1 showed a cranial venous sinus thrombosis with reduced activities of PC and PLG, 55 and 56%, respectively. And the proband 2 was his asymptomatic nephew who had a reduced PC activity of 27%...
June 16, 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Bengt Zöller, Xinjun Li, Jan Sundquist, Kristina Sundquist
Inherited hypercoagulable states (i.e. thrombophilia) have been suggested to be involved in retinal vascular occlusion but results are divergent. Vascular micronutrition and ischemia have been hypothesised to be involved in the pathogenesis of glaucoma. This nationwide study determines the importance of family history of venous thromboembolism (VTE) as a risk factor for retinal vein occlusion (RVO), retinal artery occlusion (RAO), primary open angle glaucoma (POAG) and primary angle-closure glaucoma (PACG)...
November 2016: Journal of Thrombosis and Thrombolysis
Abrar Ahmad, Kristina Sundquist, Bengt Zöller, Björn Dahlbäck, Peter J Svensson, Jan Sundquist, Ashfaque A Memon
Apolipoprotein M (ApoM) plasma levels have been reported to be associated with risk of venous thromboembolism (VTE) recurrence. However, the role of genetic alterations in the ApoM gene in VTE recurrence remains unknown. The aim of this study was to identify genetic aberrations in ApoM gene in VTE recurrence and their role in prediction of VTE recurrence in a prospective follow-up study of 1465 VTE patients. During follow-up, 156 (10.6 %) patients had VTE recurrence. First screening of whole ApoM gene was performed by Sanger's sequencing in selected age and sex matched non-recurrent and recurrent patients (n=95)...
August 30, 2016: Thrombosis and Haemostasis
Milka Klincheva, Elena Ambarkova Vilarova, Tanja Angjusheva, Ivan Milev, Enver Idoski, Zan Mitrev
INTRODUCTION: Myocardial infarction is a rare medical event in young people. The main reasons include congenital coronary abnormalities, coronary artery spasm, and coronary thrombosis due to hypercoagulable states (hereditary and acquired). AIM: We present a case of a young male adult with myocardial infarction caused by a combination of gene mutations and anticoagulation protein deficiency. CASE PRESENTATION: A 19 years old young man was admitted to our hospital complaining of chest pain during the last two weeks...
March 15, 2016: Open Access Macedonian Journal of Medical Sciences
Juraj Chudej, Ivana Plameňová
INTRODUCTION: Factor V Leiden (FVL) and prothrombin G20210A mutation (PTM) are the two most common genetic polymorphisms known to predispose to a first episode of venous thromboembolism (VTE). PTM is present in 2 % Caucasian population. The main aim of this study was to identify the PTM in the patients with positive history of thrombotic events vs. control subjects. MATERIALS AND METHODS: The assessment of PTM was performed by the PCR analysis of the chromosomal DNA, which was isolated from the peripheral blood leukocytes...
April 2016: Vnitr̆ní Lékar̆ství
Ferdinando Antonio Gulino, Stella Capriglione, Marta Fauzia, Luisa Maria Di Gregorio, Alessandra Di Stefano, Giulia Musmeci, Roberto Angioli, Marco Antonio Palumbo
INTRODUCTION: Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques. METHODS: In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction...
May 25, 2016: Gynecological Endocrinology
M E de la Morena-Barrio, I Martínez-Martínez, C de Cos, E Wypasek, V Roldán, A Undas, M van Scherpenzeel, D J Lefeber, M Toderici, T Sevivas, F España, J Jaeken, J Corral, V Vicente
UNLABELLED: Essentials We investigated the molecular base of antithrombin deficiency in cases without SERPINC1 defects. 27% of cases presented hypoglycosylation, transient in 62% and not restricted to antithrombin. Variations in genes involved in N-glycosylation underline this phenotype. These results support a new form of thrombophilia. Click here to listen to Dr Huntington's perspective on thrombin inhibition by the serpins SUMMARY: Background Since the discovery of antithrombin deficiency, 50 years ago, few new thrombophilic defects have been identified, all with weaker risk of thrombosis than antithrombin deficiency...
August 2016: Journal of Thrombosis and Haemostasis: JTH
Linda Pasta, Francesca Pasta, Mario D'Amico
BACKGROUND: There are no univocal opinions on the role of genetic thrombophilia on splanchnic vein thrombosis (SVT). We defined genetic thrombophilia the presence of one of these thrombophilic genetic factors (THRGFs): PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and prothrombin 20210A. OBJECTIVES: To evaluate the frequencies of these THRGFs in SVT patients, we analyzed individual data of 482 Caucasian patients, recruited from 2000 to 2014 in three prospective studies...
March 2016: Journal of Clinical and Experimental Hepatology
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