scholarly journals Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population

2002 ◽  
Vol 71 (4) ◽  
pp. 300-305 ◽  
Author(s):  
Ramzi R. Finan ◽  
Hala Tamim ◽  
Ghada Ameen ◽  
Huda E. Sharida ◽  
Mooza Rashid ◽  
...  
Keyword(s):  
Recurrent Miscarriage ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V G1691a

scholarly journals Thrombophilia gene mutations in relation to recurrent miscarriage

2018 ◽  
Vol 7 (3) ◽  
pp. 796 ◽  
Author(s):  
Tawfik Abdelsalam ◽  
Tarek Karkour ◽  
Magdy Elbordiny ◽  
Dina Shalaby ◽  
Ziad S. Abouzeid
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Recurrent Miscarriage ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Total Prevalence ◽  
History Of ◽  
Prothrombin Gene

Background: Recurrent pregnancy loss is multifactorial involving clinical and biological risk factors. Evidence addressed the association of inherited thrombophilia with recurrent pregnancy loss and other serious pregnancy complications. However, the relation between thrombophilia associated gene mutations and adverse obstetric outcome is controversial and data in the literature are inconsistent. The aim of this study was to investigate the prevalence of thrombophilia associated gene mutations (factor V Leiden, prothrombin gene G20210A and methylene-tetrahydrofolate reductase MTHFR C677T) in relation to recurrent miscarriage.Methods: Case control study conducted on 200 women recruited from Elshatby Maternity Hospital clinics. The cases group included 100 women with history of three or more unexplained consecutive pregnancy losses, while 100 healthy age matched women with no history of recurrent miscarriages served as controls. Blood samples were collected from all women enrolled in the study for DNA extraction and genotype analysis. Factor V, prothrombin and MTHFR gene mutations were assayed based on polymerase chain reaction (PCR) and reverse-hybridization.Results: The prevalence of Factor V Leiden and prothrombin gene G20210A mutations did not differ significantly between cases and controls. However, MTHFR C667T mutations and the total prevalence of the three gene mutations were significantly increased in the patients group compared to controls (p=0.001, p=0.003 respectively). The prevalence of combined thrombophilia of Factor V Leiden and MTHFR C677T was significantly increased in the patients group compared to controls (p=0.032). Regarding homozygosity of each of the gene mutations, no homozygosity was detected in controls and heterozygotes were significantly increased in the patients group compared to homozygotes.Conclusions: MTHFR mutations and the total prevalence of the three gene mutations were significantly increased in the patients group compared to controls. There was a significant increase in the prevalence of combined thrombophilia (Factor V Leiden and MTHFR C677T) in the patients group compared to controls without involvement of prothrombin gene.

Factor V Leiden and Prothrombin G20210A Gene Mutations Should Not Be Routinely Screened among Venous Thromboembolism (VTE) Patients in Singapore - This and Patterns of Other Thrombophilic Conditions among Our VTE Patients.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4087-4087
Author(s):  
Heng Joo Ng ◽  
Lai Heng Lee ◽  
Te-Chih Liu ◽  
Lip Kun Tan ◽  
Ponnudurai Kuperan
Keyword(s):  
Gene Mutation ◽  
Antithrombin Iii ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Anticardiolipin Antibody ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Protein C Deficiency ◽  
G20210a Mutation

Abstract Introduction: Emerging good quality evidence has suggested that the prevalence of VTE among Asians is significant and was largely underestimated previously. Objective and methods: We conducted a study of thrombophilic markers among our population of VTE patients to determine their prevalence and help determine the best screening strategy among our increasing number of VTE patients. Three major hospitals in the country were involved in this study. Results: Of 254 patients recruited, ethnic distribution was as follows: Chinese 68.1%, Malays 17.3%, Indians 12.6%, Others 2%. The ratio of males to females was 2:3. Major risk factors such as surgery, trauma and malignancy was recordedand identified in about 80% of the population. Twenty-one percent of patients had pulmonary embolism. Positive results of thrombophilic markers were as follows: protein C deficiency, 4 patients (1.52%); protein S deficency, 26 (10.24%), antithrombin III deficiency, 11 (4.33%); lupus anticoagulant, 9 (3.54%); anticardiolipin antibody IgG, 3 (1.18%); anticardiolipin antibody IgM, 6 (2.36%); hyperhomocysteinemia, 32 (12.6%); factor V Leiden gene mutation, 0 (0%); prothrombin 20210 gene mutation, 0 (0%). The prevalence of at least one thrombophilic condition was found in about one third of our patients. The relative risks of these thrombophilic conditions will be compared with a healthy control population. Conclusion: Among our VTE patients, the most commonly associated thrombophilic conditions were protein S and antithrombin III deficiencies. The factor V Leiden and prothrombin G20210A mutation did not feature at all in our patient population and is consistent with other studies on Asian populations. These tests should not be included as part of our thrombophilic screening.

scholarly journals Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

2011 ◽  
Vol 284 (5) ◽  
pp. 1127-1132 ◽  
Author(s):  
Fátima Serrano ◽  
Maria Luísa Lima ◽  
Cristina Lopes ◽  
João Paulo Almeida ◽  
Jorge Branco
Keyword(s):  
Recurrent Miscarriage ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V

scholarly journals Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women

2016 ◽  
Vol 15 (3) ◽  
Author(s):  
R.O. Gonçalves ◽  
L.R. Fraga ◽  
W.V.B. Santos ◽  
A.F.L. Carvalho ◽  
B.A.V. Veloso Cerqueira ◽  
...  
Keyword(s):  
Recurrent Miscarriage ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V
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