22 -8 (58) 2023 — Ashurova U.A., Nazhmutdinova D.K. — CLINICAL FEATURES AND GENETIC DEFECT IN PATIENTS WITH CONGENITAL FIBRINOGEN DISORDERS

CLINICAL FEATURES AND GENETIC DEFECT IN PATIENTS WITH CONGENITAL FIBRINOGEN DISORDERS

Ashurova U.A., Tashkent Medical Academy

Nazhmutdinova D.K., Tashkent Medical Academy

Abdullaeva L.M. Tashkent Medical Academy

Resume

The review article highlights the issues of genetic mutations of the fibrinogen gene, gene structure and clinical features.

Keywords: clinical manifestations, genetic defects, hereditary disorders of fibrinogen, dysfibrinogenemia, afibrinogenemia, hypofibrinogenemia

First page

125

Last page

131

For citation: Ashurova U.A., Nazhmutdinova D.K., Abdullaeva L.M. – CLINICAL FEATURES AND GENETIC DEFECT IN PATIENTS WITH CONGENITAL FIBRINOGEN DISORDERS //New Day in Medicine 2023 8(58): 125-131 https://newdaymedicine.com/index.php/2023/08/17/l-310/

LIST OF REFERENCES:

1. Amri Y., Dabboubi R., Mghaieth F., Zili M., Messaoud T., Casini A., de Moerloose P., Toumi N.H. Molecular characterization of two hypofibrinogenemic patients associated with a novel FGG IVS6+23T>A substitution and a previously reported FGB IVS6-10_16delTTTG deletion. //Haemophilia 2020;26:86-96.
2. Asselta R., Platè M., Robusto M. et al. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. //Thromb Haemost 2015;113(03):567-576.
3. Aung N.N., Kennedy, H., Faed, J.M., Brennan, S.O. Novel Heterozygous Bβ (c.1311T>A) Mutation (Fibrinogen St Kilda) Associated with Recurrent Pregnancy Loss. //Pathology 2015;47:583-585.
4. Casini A., Blondon M., Tintillier V., Goodyer M., Sezgin M.E., Gunes A.M., Hanss M., De Moerloose P., Neerman Arbez M. Mutational Epidemiology of Congenital Fibrinogen Disorders. //Thromb. Haemost. 2018;118:1867-1874.
5. Casini A., de Moerloose P. Fibrinogen concentrates in hereditary fibrinogen disorders: Past, present and future. //Haemophilia 2020;26:25-32.
6. Casini A., Undas A., Palla R., Thachil. J de Moerloose P. Subcommittee on Factor XIII and Fibrinogen. Diagnosis and classification of congenital fibrinogen disorders: Communication from the SSC of the ISTH. // J. Thromb. Haemost. 2018;16:1887-1890.
7. Casini A., Vilar R., Beauverd Y., Aslan D., Devreese K., Mondelaers V., Alberio L., Gubert C., De Moerloose P., Neerman-Arbez M. Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia. //Haemophilia 2017;23:583-589.
8. Chapin J.C., Hajjar K.A. Fibrinolysis and the control of blood coagulation. // Blood Rev. 2015;29:17-24.
9. Cronj H.T., Nienaber-Rousseau C., Zandberg L., Chikowore T., Lange Z., van Zyl T., Pieters, M. Candidate gene analysis of the fibrinogen phenotype reveales the importance of polygenic co-regulation. // Matrix Biol. 2016;60:16-26.
10. Fernández-Cadenas I, Penalba A, Boada C, et al. Exome sequencing and clot lysis experiments demonstrate the R458C mutation of the alpha chain offibrinogen to be associatedwithimpairedfibrinolysis in a family with thrombophilia. //J Atheroscler Thromb 2016;23(04):431-440.
11. Kaido T., Yoda M., Kamijo T., Taira C., Higuchi Y., Okumura N. Comparison of molecular structure and fibrin polymerization between two Bβ—Chain N—terminal region fibrinogen variants, Bβp. G45C and Bβp.R74C. // Int. J. Hematol. 2020;112:331-340.
12. Kamijo T., Mukai S., Taira C., Higuchi Y., Okumura N. γD318Y fibrinogen shows no fibrin polymerization due to defective “A-a” and “B-b” interactions, whereas that of γK321E fibrinogen is nearly normal. // Thromb. Res. 2019;182:150-158.
13. Kattula S., Byrnes J.R., Wolberg A.S. Fibrinogen and fibrin in hemostasis and thrombosis. // Thromb. Vasc. Biol. 2017;37:13-21.
14. Korte W., Poon M.C., Iorio A., Makris M. Thrombosis in Inherited Fibrinogen Disorders. // Transfus. Med. Hemother. 2017;44:70-76.
15. Mukaddam A., Patil R., Jadli A., Chandrakala S., Ghosh K., Shetty S. Pradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen Mumbain mutation. // Am. J. Clin. Pathol. 2015;143:755-757.
16. Mukai S, Nagata K, Ikeda M, et al. Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129þ62_65 del AATA and FGG c.1299þ4 del A. // Thromb Res 2016;148:111-117.
17. Nagler M, Kremer Hovinga JA, Alberio L, et al. Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review. // Thromb Haemost. 2016;116(4):722-732.
18. Naz A., Biswas A., Khan T.N., Goodeve A., Ahmed N., Saqlain N., Ahmed S., Ujjan I.D., Shamsi T.S., Oldenburg J. Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. // Thromb. J. 2017;15:24.
19. Neerman-Arbez M, de Moerloose P, Casini A. Laboratory and genetic investigation of mutations accounting for congenital fibrinogen disorders. // Semin Thromb Hemost 2016;42(04):356–365.
20. Neerman-Arbez M., Casini A. Clinical Consequences and Molecular Bases of Low Fibrinogen // Levels. Int. J. Mol. Sci. 2018;19:192.