Journal of American Science 2014;10(9) http://www.jofamericanscience.org 63 The Frequency of Factor V Leiden Mutation among Sudanese Pregnant Women with Recurrent Miscarriage Asaad Mohammed Ahmed Abd Allah Babker, 1 and Fath Elrahman Mahdi Hassan Gameel 2 1 Department of Hematology and Immunohaematology College of Medical Laboratory Science Sudan University of Science and Technology 2 Departments of Hematology and Immunohaematology College of Medical Laboratory Science Sudan University of Science and Technology azad.88@hotmail.com Abstract: The purpose of this study was to determine the prevalence and analysis of factor V Leiden G1691A (Leiden mutation) among Sudanese women with recurrent abortions; further, to identify a subgroup at higher risk of being carriers of these mutations. Design: A prospective analytical case controls study between 2012 and 2014.Setting: Omdurman Maternity Hospital (Sudan- Omdurman).Patient(s): Hundred women with 3 or more consecutive miscarriages were reported at 94 controls.Materials and Methods: Between July 2012 and June 2014, in a nested case control study, pregnant women with recurrent miscarriages (N=100) as cases and health (N=100) as controls were enrolled in the study. DNA was extracted from 15 CC peripheral bloods and analyzed for the presence of factor V Leiden mutation in these subjects. Result(s): In total, 8(8.6%) of cases and 6(6%) of controls showed the factor V Leiden. CONCLUSION: We conclude that the low prevalence of Factor V Leiden (8.6%), in Sudanese women with RPL and does not play a role in the pathogenesis of recurrent pregnancy loss among our population. [Abd Allah AM, Hassan F M. The Frequency of Factor V Leiden Mutation among Sudanese Pregnant Women with Recurrent Miscarriage. J Am Sci 2014;10(9):63-66]. (ISSN: 1545-1003). http://www.jofamericanscience.org. 8 Keywords: Factor V Leiden, Mutation, Sudanese Pregnant Women, Recurrent Miscarriage 1. Introduction Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy losses before twenty weeks of gestation, which affects 1-3% of couples.(1) Thrombophilia is considered still a debated question that may be common in women with unexplained recurrent pregnancy loss, with prevalence as high as 65% in selected populations (2,3). The thrombophilias are a number of prothrombinase factors, which can either be inherited or acquired. The inherited thrombophilias include activated protein C resistance [95% due to factor V Leiden (FVL) mutation], protein S deficiency, protein C deficiency, antithrombin III deficiency, FII (prothrombin) mutation and hyper homocysteinaemia (4,5). Pregnancy loss is a common medical problem among reproductive age women. 1 However, relatively few women having one pregnancy loss experience multiple or “recurrent” pregnancy losses (RPLs). Approximately 5% of such women expert-ence of a second pregnancy loss and only 1– 2% three or More.1evaluation for RPL often includes ruling out parental chose measure abnormalities, identifying maternal exposures, and testing for underlying maternal conditions.(6,7) Factor V Leiden (FVL) and prothrombin (G20210A) mutations are the 2 most common causes have been implicated as risk factors of hereditary thrombophilias which in turn can result in placenta Ation. Factor V Leiden mutation in the pathogenesis of preeclampsia syndrome among the pregnant population of northern shore of Persian Gulf in Iran and concluded that the pregnant women with factor V Leiden mutation are prone for preeclampsia syndrome during pregnancy, but this Risk factor was not correlated to pregnancy complications in the studied women.(6) The FVL3 allele is linked to pregnancy complications and adverse outcomes and conclude that the FVL mutation is a significant risk factor for pregnancy complications and adverse outcomes.(7) Factor V Leiden mutation is a result of an amino acid substitution of glutamine for Arginine at amino acid position 506 in the factor V molecule. During normal clotting activated protein C (APC) inactivates factor Va and VIIIa by cleavage at specific sites. In the presence of the mutation in factor V, the cleavage of this factor is deprived, leading to enhanced thrombin generation and hence increased clot formation. The maternal thrombophilia which is due to FVL mutation may result in production of micro thromboses in placental blood vessels and placental infractions, which damage the maternal vessels supplying the placenta (the spiral arteries) leading to low placental perfusion and eventually in fetal death. This mutation is responsible for up to 95% cases of APC resistance in non-pregnant individuals; inheritance of the mutation is autosomal dominant. Prothrombin gene G1691A –A mutation, a single base-pair substitution gives rise to increased prothrombin levels due to unknown mechanisms, predisposing to thrombosis, (8)