95 -3 (77) 2025 - Zaripova D.Ya., Uljabaev J.A. - FIBRINOGEN MUTATIONS, А HEREDITARY DISORDERS OF THE HEMOSTASIS SYSTEM

FIBRINOGEN MUTATIONS, А HEREDITARY DISORDERS OF THE HEMOSTASIS SYSTEM

Zaripova D.Ya. - Bukhara State Medical Institute named after Abu Ali ibn Sina, Andijan State Medical Institute

Uljabaev J.A. - Bukhara State Medical Institute named after Abu Ali ibn Sina, Andijan State Medical Institute

Akhmadjonova G.M. - Bukhara State Medical Institute named after Abu Ali ibn Sina, Andijan State Medical Institute

Resume

Fibrinogen is a hexameric protein of mass synthesized in the liver and consisting of three homologous peptide chains. Each polypeptide is encoded by a separate gene FGB, FGA, and FGG. To date, more than 80 mutations have been registered that lead to quantitative hereditary fibrinogen disorders. Null mutations in FGA are the most common cause of afibrinogenemia (in homozygosity or in compound heterozygosity) and hypofibrinogenemia (in heterozygosity). Interest in this mutation may explain a number of complications in childbirth and the postpartum period.

Key words: hemostasis, blood coagulation system, pregnancy, obstetric complications.

First page

544

Last page

550

For citation:Zaripova D.Ya., Uljabaev J.A., Akhmadjonova G.M. - FIBRINOGEN MUTATIONS, А HEREDITARY DISORDERS OF THE HEMOSTASIS SYSTEM//New Day in Medicine 3(77)2025 544-550 https://https://newdayworldmedicine.com/en/new_day_medicine/3-77-2025

List of References

  1. Hyde K.J., Schust DJ. Genetic considerations in recurrent pregnancy loss. Cold Spring Harb Perspect Med. 2015;5:a023119. doi: 10.1101/cshperspect.a023119.
  2. Pandey Snehlata, Pandey Archana, Chauhan UK, Tripathi Arvind, Tripathi Jitendra, Dubei Sanjeev, et al. Recurrent pregnancy loss and association of MTHFR, PAI-1 and ACE gene polymorphisms in women. 2015;1(4):50-55.
  3. Su MT, Lin SH, Chen YC, Kuo PL. Genetic association studies of ACE and PAI-1 genes in women with recurrent pregnancy loss: a systematic review and meta-analysis. 2013;109(1):8-15. doi: 10.1160/TH12-08-0584.
  4. Nordt TK, Lohrmann J, Bode C. Regulation of PAI-1 expression by genetic polymorphism. Impact on atherogenesis. Thromb Res. 2001;103(1):S1-5. doi: 10.1016/s0049-3848(01)00292-4.
  5. Francis CW. Plasminogen activator inhibitor-1 levels and polymorphisms. Arch Pathol Lab Med. 2002;126(11):1401-1404. doi: 10.5858/2002-126-1401-PAILAP.
  6. Sartori MT, Danesin C, Saggiorato G, Tormene D, Simioni P, Spiezia L, et al. The PAI-1 gene 4G/5G polymorphism and deep vein thrombosis in patients with inherited thrombophilia. Clin Appl Thromb Hemost. 2003;9(4):299-307. doi: 10.1177/107602960300900405.
  7. Tsantes AE, Nikolopoulos GK, Bagos PG, Rapti E, Mantzios G, Kapsimali V, et al. Association between the plasminogen activator inhibitor-1 4G/5G polymorphism and venous thrombosis. A meta-analysis. 2007;97(6):907-913.
  8. Mahmutbegovic E, Skonieczna-Zydecka K, Valjevac A, Mahmutbegovic N, Pawinska-Matecka A, Czerska E, et al. Lack of association between I/D ACE and -675 ID 4G/5G PAI-1 polymorphisms and predicting risk of pregnancy loss (PROPALO) in Bosnian women. In: Badnjevic A, editor. CMBEBIH 2017, IFMBE Proceedings 62; Springer Nature Singapore Pte Ltd. 2017.
  9. Ivanov P, Komsa-Penkova R, Konova E, Gecheva S, Ivanov I, Kovacheva K, et al. Combined thrombophilic factors among women with late recurrent spontaneous abortions. Akush Ginekol. (Sofiia) 2011;50(3):8-12. (in Bulgarian).
  10. Ivanov P, Komsa-Penkova R, Ivanov I, Konova E, Kovacheva K, Simeonova M, et al. Plasminogen activator inhibitor type 1 activity in women with unexplained very early recurrent pregnancy loss. Akush Ginekol. (Sofiia) 2010;49(5):3-8.
  11. Subrt I, Ulcova-Gallova Z, Cerna M, Hejnalova M, Slovanova J, Bibkova K, et al. Recurrent pregnancy loss, plasminogen activator inhibitor-1 (-675) 4G/5G polymorphism and antiphospholipid antibodies in Czech women. Am J Reprod Immunol. 2013;70(1):54-58. doi: 10.1111/aji.12099.
  12. Elmahgoub I.R., Afify R.A., Abdel Aal A.A., El-Sherbiny W.S. Prevalence of coagulation factor XIII and plasminogen activator inhibitor-1 gene polymorphisms among Egyptian women suffering from unexplained primary recurrent miscarriage. J Reprod Immunol. 2014;103:18-22. doi: 10.1016/j.jri.2014.02.007.
  13. Wolf CE, Haubelt H, Pauer HU, Hinney B, Krome-Cesar C, Legler TJ, et al. Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor. Pathophysiol Haemost Thromb. 2003;33(3):134-137. doi: 10.1159/000077821.
  14. Buchholz T, Lohse P, Rogenhofer N, Kosian E, Pihusch R, Thaler CJ. Polymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages. Hum Reprod. 2003;18(11):2473-2477. doi: 10.1093/humrep/deg474.
  15. Parveen F, Tuteja M, Agrawal S. Polymorphisms in MTHFR, MTHFD, and PAI-1 and recurrent miscarriage among North Indian women. Arch Gynecol Obstet. 2013;288(5):1171-1177. doi: 10.1007/s00404-013-2877-x.
  16. Poursadegh Zonouzi A, Chaparzadeh N, Ghorbian S, Sadaghiani MM, Farzadi L, Ghasemzadeh A, et al. The association between thrombophilic gene mutations and recurrent pregnancy loss. J Assist Reprod Genet. 2013;30(10):1353-1359. doi: 10.1007/s10815-013-0071-5.
  17. Khosravi F, Zarei S, Ahmadvand N, Akbarzadeh-Pasha Z, Savadi E, Zarnani AH, et al. Association between plasminogen activator inhibitor 1 gene mutation and different subgroups of recurrent miscarriage and implantation failure. J Assist Reprod Genet. 2014;31(1):121-124. doi: 10.1007/s10815-013-0125-8.
  18. Torabi R, Zarei S, Zeraati H, Zarnani AH, Akhondi MM, Hadavi R, et al. Combination of thrombophilic gene polymorphisms as a cause of increased the risk of recurrent pregnancy loss. J Reprod Infertil. 2012;13(2):89-94.
  19. Kim J.J., Choi Y.M., Lee S.K., Yang K.M., Paik E.C., Jeong H.J., et al. The PAI-1 4G/5G and ACE I/D polymorphisms and risk of recurrent pregnancy loss: a case-control study. Am J Reprod Immunol. 2014;72(6):571-576. doi: 10.1111/aji.12302.
  20. Dordevic V, Gvozdenov M, Pruner I, Kovac M, Tomic B, Stankovic M, et al. The prevalence of PAI-1 4G/5G Polymorphism in women in fetal loss-first data for a Serbian population. J Med Biochem. 2014;33(2):203-207.

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