Lack of Association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T Mutations, and Early Recurrent Pregnancy Loss in a Group of Sudanese Women
BACKGROUND: Recurrent pregnancy loss is classically defined as the occurrence of three or more consecutive pregnancy loss. Recurrent pregnancy loss affects from 1-5% of the reproductive age couples. This diagnosis is both emotionally challenging and confusing for most couples, as the definitive diagnosis using conventional evaluations is found in fewer than half of the couples experiencing repeated loss.
AIM: The purpose of this study was to define the association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T mutations and recurrent pregnancy loss in a group of Sudanese women.
MATERIALS AND METHODS: This a retrospective analytical case control study was carried out at Omdurman Maternal Hospital, Sudan between July 2013 to July 2015. Consent was obtained from the ethical committee of the Faculty Research Board and Hospital of Omdurman Maternity Hospital (Sudan). The study included a hundred pregnant females with a history of recurrent spontaneous abortion as the (case group) and ninety-five healthy reproductive Sudanese women as the (control group). The data was collected with the help of a structured questionnaire and direct interview to collect information. Identification of point mutation in factor V Leiden G1691A, prothrombin G20210A and MTHF C677T gene by polymerase chain reaction was performed. The odds ratio and the 95% confidence interval (95%CI) were calculated for the presence of mutation case group and the control group and analyzed by SPSS program, version 17.0.
RESULTS: The frequency of prothrombin G20210A, MTHFC677T, was low overall, except for the Factor V Leiden G1691A. The differences between patients and controls had no statistical significance (P- Value>0.05).
CONCLUSION: Our study confirms the low prevalence of inherited thrombophilias in Sudanese populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in the Sudanse population.Therefore, we conclude that the low prevalence of Factor V Leiden, prothrombin G20210A and MTHFC677T in Sudanese women with RPL and does not play a role in the pathogenesis of recurrent pregnancy loss among our population.
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Li YH, Marren A. Recurrent pregnancy loss. Aust J Gen Pract. 2018;47(7):432. PMid:30114870
Atik RB, Christiansen OB, Elson J, Kolte AM, Lewis S, Middeldorp S, et al. ESHRE Guideline: Recurrent Pregnancy Loss. United States: ESHRE Guideline Group on RPL; 2018.
Grimstad F, Krieg S. Immunogenetic contributions to recurrent pregnancy loss. J Assisted Reprod Genet. 2016;33(7):833-47. https://doi.org/10.1007/s10815-016-0720-6 PMid:27169601
D’Uva M, Di Micco P, Strina I, De Placido G. Recurrent pregnancy loss and thrombophilia. J Clin Med Res. 2010;2(1):18. PMid:22457696
Battinelli EM, Marshall A, Connors JM. The role of thrombophilia in pregnancy. Thrombosis. 2013;2013:9. https://doi.org/10.1155/2013/516420
Giovanni L, Antonio AP, Danilo C, Stefano G, Therese D, Elisabetta RM, et al. Thrombophilias and pregnancy complications: A case-control study. Int J Biomed Sci. 2007;3(3):168. PMid:23675040
Ruiz LG, Oliveira MG, Ruiz AL, Daher CS, Nogueira ML. Hereditary thrombophilia by factor V Leiden G1691A (heterozygous) and FII prothrombin G20210A (homozygous) mutations in a patient with ischemic cerebrovascular accident. J Bras Patol Med Lab. 2018;54(2):92-4. https://doi. org/10.5935/1676-2444.20180016
Nguyen A. Prothrombin G20210A polymorphism and thrombophilia. Mayo Clin Proc. 2000;75(6):595-604. https://doi. org/10.4065/75.6.595
Abdullah WZ, Kumaraguru S, Ghazali S, Yusoff NM. Factor V Leiden and prothrombin G20210A mutations among healthy Indians in Malaysia. Lab Med. 2010;41(5):284-7. https://doi. org/10.1309/lm9w9l8gqpczvayo
Long S, Goldblatt J. MTHFR genetic testing: Controversy and clinical implications. Aust Fam Physician. 2016;45(4):237. PMid:27052143
IvyA AA, Louis MA. The 5, 10 methylenetetrahydrofolatereductase C677T mutation and risk of fetal loss: A case series and review of the literature.Thromb J. 2007;5:17. PMid:17941987
Al-Achkar W, Wafa A, Ammar S, Moassass F, Jarjour RA. Association of methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms with recurrent pregnancy loss in Syrian women. Reprod Sci. 2017;24(9):1275-9. https://doi. org/10.1177/1933719116682874 PMid:28814189
Serrano F, Lima ML, Lopes C, Almeida JP, Branco J. Factor V Leiden and prothrombin G20210A in portuguese women with recurrent miscarriage: Is it worthwhile to investigate? Arch Gynecol Obstetr. 2011;284(5):1127-32. https://doi.org/10.1007/s00404-010-1834-1 PMid:21259017
Roque H, Paidas MJ, Funai EF. Maternal thrombophilias are not associated with early pregnancy loss. Thromb Haemost. 2004;91(2):290. https://doi.org/10.1160/th03-09-0596 PMid:14961156
Clark P, Walker ID, Govan L. The GOAL study: A prospective examination of the impact of factor V Leiden and ABO blood groups on haemorrhagic and thrombotic pregnancy outcomes. Br J Haematol. 2008;140(2):236. https://doi. org/10.1111/j.1365-2141.2007.06902.x PMid:18028481
Cardona H, Castañeda SA, Maya WC, Alvarez L, Gómez J, Gómez J, et al. Lack of association between recurrent pregnancy loss and inherited thrombophilia in a group of Colombian patients. Thrombosis. 2012;2012:367823. https:// doi.org/10.1155/2012/367823 PMid:22577540
Abu-Asab NS, Ayesh SK, Ateeq RO, Nassar SM, El-Sharif WA. Association of inherited thrombophilia with recurrent pregnancy loss in palestinian women. Obstetr Gynecol Int. 2011;2011:6. https://doi.org/10.1155/2011/689684
Abdelsalam T, Karkour T, Elbordiny M, Shalaby D, Abouzeid ZS. Thrombophilia gene mutations in relation to recurrent miscarriage. Int J Reprod Contracept Obstet Gynecol 2018;7:796-800. https:// doi.org/10.18203/2320-1770.ijrcog20180857
Badawy A, AlSel BA, Fawzy MS. Factor V Leiden G1691A and prothrombin G20210A mutations are associated with repeated spontaneous miscarriage in Northern area of Saudi Arabia. Genet Mol Res. 2017;16(4):16039810. https://doi.org/10.4238/ gmr16039810
Alfeel AH. Association of Factor V-Leiden and Prothrombin G20210A Mutations wth Deep Venous Thrombosis in Patients Attending Khartoum Hospitals, Khartoum State, Sudan (2013- 2016), Doctoral Dissertation. Sudan: University of Gezira; 2016.
Awad-Elkareem A, Elzaki SG, Khalid H, Abdallah MS, Adam I. A low rate of factor V Leiden mutation among Sudanese women with deep venous thrombosis during pregnancy and puerperium. J Obstetr Gynaecol. 2017;37(7):963-4. https://doi.org/10.1080/0 1443615.2017.1306033 PMid:28395587
Awad NS, Almalki TA, Sabry AM, Mohamed AA, Said MM, El-Tarras AE. Screening of factor V G1691A (Leiden) and factor II/prothrombin G20210A polymorphisms among apparently healthy taif-Saudi Arabia population using a reverse hybridization strip assay approach. World J Med Sci 2013;9(4):202-7
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