Factor V Leiden and prothrombin gene mutations in Egyptian cases with unexplained recurrent pregnancy loss

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.

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P-028 Prevalence of Factor V Leiden and prothrombin gene mutation G20210A in women with recurrent pregnancy loss

Thrombosis Research ◽

10.1016/s0049-3848(13)70074-4 ◽

2013 ◽

Vol 131 ◽

pp. S84

Author(s):

K. Vasilakos ◽

D. Delkos ◽

K. Kydonopoulou ◽

E. Papadakis ◽

K. Tsioni ◽

...

Keyword(s):

Gene Mutation ◽

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Factor V Leiden ◽

Factor V ◽

Prothrombin Gene Mutation ◽

Prothrombin Gene

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Association of factor V Leiden G1691A and prothrombin gene G20210A mutations with adverse pregnancy outcomes

Journal of the Pakistan Medical Association ◽

10.47391/jpma.1377 ◽

2021 ◽

pp. 1-15

Author(s):

Sidra Asad Ali ◽

Bushra Moiz ◽

Lumaan Sheikh

Keyword(s):

Gene Mutation ◽

Pregnancy Outcomes ◽

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Factor V Leiden ◽

Control Group ◽

Factor V ◽

Prothrombin Gene Mutation ◽

Prothrombin Gene ◽

Adverse Pregnancy

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....

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Survey of Factor V Leiden and Prothrombin Gene Mutations in Systemic Lupus Erythematosus

Clinical Rheumatology ◽

10.1007/s100670170040 ◽

2001 ◽

Vol 20 (4) ◽

pp. 259-261 ◽

Cited By ~ 11

Author(s):

R. Topaloglu ◽

C. Akıerli ◽

A. Bakkaloglu ◽

O. Aydıntug ◽

S. Ozen ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Gene Mutations ◽

Factor V Leiden ◽

Factor V ◽

Systemic Lupus ◽

Prothrombin Gene

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Risk of Pregnancy-related Venous Thrombosis in Carriers of Severe Inherited Thrombophilia

Thrombosis and Haemostasis ◽

10.1055/s-0037-1616134 ◽

2001 ◽

Vol 86 (09) ◽

pp. 800-803 ◽

Cited By ~ 64

Author(s):

Cristina Legnani ◽

Paolo Bucciarelli ◽

Elvira Grandone ◽

Valerio De Stefano ◽

Pier Mannuccio Mannucci ◽

...

Keyword(s):

Venous Thrombosis ◽

Gene Mutations ◽

Factor V Leiden ◽

Study Cohort ◽

Factor V ◽

Thrombotic Risk ◽

Increased Risk ◽

Prothrombin Gene ◽

Heterozygous Carriers ◽

Anticoagulant Prophylaxis

SummaryHomozygous carriers of factor V Leiden have an approximately 80-fold increased risk of venous thrombosis. Also double heterozygous carriers of both the factor V Leiden and the prothrombin gene mutations are at high thrombotic risk. The magnitude of the risk of venous thrombosis in pregnant women with the two severe thrombophilic conditions has not been estimated so far. We performed a multicenter retrospective family study in women with homozygous factor V Leiden, double heterozygous factor V Leiden and the prothrombin gene mutation, and women with normal coagulation. Only relatives of index patients with thrombosis formed the study cohort. Fifteen homozygous and 39 double heterozygous women were compared to 182 women with normal coagulation. Venous thrombosis occurred in 3 of 19, 2 of 50 and 1 of 221 pregnancies, respectively. One thrombotic episode occurred in the third trimester, the remaining 5 in the postpartum. The prevalence of venous thrombosis was 15.8% (95% CI 3.4-39.6) for homozygotes, 4.0% (95% CI 0.5-13.7) for double heterozygotes and 0.5% for women with normal coagulation. The relative risk of pregnancy-related venous thrombosis was 41.3 (95% CI 4.1-419.7) for homozygous and 9.2 (95% CI 0.8-103.2) for double heterozygous carriers. In conclusion, homozygous carriers of factor V Leiden and, to a lesser extent, double heterozygous carriers of factor V Leiden and of the prothrombin mutation have an increased risk of venous thrombosis during pregnancy, particularly high during the postpartum period. On the basis of these findings we recommend that these women receive anticoagulant prophylaxis at least in the postpartum, that should perhaps be extended to the whole pregnancy in homozygous carriers.

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