POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS
Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophili...
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Gespeichert in:
| Autor*in: |
T. Yu. Polyanskaya [verfasserIn] I. S. Fevraleva [verfasserIn] E. E. Karpov [verfasserIn] N. V. Sadykova [verfasserIn] M. S. Sampiev [verfasserIn] A. V. Golobokov [verfasserIn] G. V. Mishin [verfasserIn] D. Yu. Petrovskiy [verfasserIn] A. A. Koroleva [verfasserIn] G. M. Galstyan [verfasserIn] A. B. Sudarikov [verfasserIn] V. Yu. Zorenko [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Russisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
In: Сибирский научный медицинский журнал - Russian Academy of Sciences, Siberian Branch Publishing House, 2020, 39(2019), 1, Seite 106-111 |
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| Übergeordnetes Werk: |
volume:39 ; year:2019 ; number:1 ; pages:106-111 |
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Link aufrufen |
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| DOI / URN: |
10.15372/SSMJ20190115 |
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| Katalog-ID: |
DOAJ081057776 |
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| 245 | 1 | 0 | |a POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS |
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| 520 | |a Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. | ||
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| 650 | 4 | |a thrombophilia gene polymorphism | |
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| 700 | 0 | |a N. V. Sadykova |e verfasserin |4 aut | |
| 700 | 0 | |a M. S. Sampiev |e verfasserin |4 aut | |
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10.15372/SSMJ20190115 doi (DE-627)DOAJ081057776 (DE-599)DOAJa58242bb3c574a72918378882c15c458 DE-627 ger DE-627 rakwb rus T. Yu. Polyanskaya verfasserin aut POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. hemophilia hemophilia phenotypes thrombophilia gene polymorphism Medicine R I. S. Fevraleva verfasserin aut E. E. Karpov verfasserin aut N. V. Sadykova verfasserin aut M. S. Sampiev verfasserin aut A. V. Golobokov verfasserin aut G. V. Mishin verfasserin aut D. Yu. Petrovskiy verfasserin aut A. A. Koroleva verfasserin aut G. M. Galstyan verfasserin aut A. B. Sudarikov verfasserin aut V. Yu. Zorenko verfasserin aut In Сибирский научный медицинский журнал Russian Academy of Sciences, Siberian Branch Publishing House, 2020 39(2019), 1, Seite 106-111 (DE-627)1760636363 24102520 nnns volume:39 year:2019 number:1 pages:106-111 https://doi.org/10.15372/SSMJ20190115 kostenfrei https://doaj.org/article/a58242bb3c574a72918378882c15c458 kostenfrei https://sibmed.elpub.ru/jour/article/view/114 kostenfrei https://doaj.org/toc/2410-2512 Journal toc kostenfrei https://doaj.org/toc/2410-2520 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ AR 39 2019 1 106-111 |
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10.15372/SSMJ20190115 doi (DE-627)DOAJ081057776 (DE-599)DOAJa58242bb3c574a72918378882c15c458 DE-627 ger DE-627 rakwb rus T. Yu. Polyanskaya verfasserin aut POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. hemophilia hemophilia phenotypes thrombophilia gene polymorphism Medicine R I. S. Fevraleva verfasserin aut E. E. Karpov verfasserin aut N. V. Sadykova verfasserin aut M. S. Sampiev verfasserin aut A. V. Golobokov verfasserin aut G. V. Mishin verfasserin aut D. Yu. Petrovskiy verfasserin aut A. A. Koroleva verfasserin aut G. M. Galstyan verfasserin aut A. B. Sudarikov verfasserin aut V. Yu. Zorenko verfasserin aut In Сибирский научный медицинский журнал Russian Academy of Sciences, Siberian Branch Publishing House, 2020 39(2019), 1, Seite 106-111 (DE-627)1760636363 24102520 nnns volume:39 year:2019 number:1 pages:106-111 https://doi.org/10.15372/SSMJ20190115 kostenfrei https://doaj.org/article/a58242bb3c574a72918378882c15c458 kostenfrei https://sibmed.elpub.ru/jour/article/view/114 kostenfrei https://doaj.org/toc/2410-2512 Journal toc kostenfrei https://doaj.org/toc/2410-2520 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ AR 39 2019 1 106-111 |
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10.15372/SSMJ20190115 doi (DE-627)DOAJ081057776 (DE-599)DOAJa58242bb3c574a72918378882c15c458 DE-627 ger DE-627 rakwb rus T. Yu. Polyanskaya verfasserin aut POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. hemophilia hemophilia phenotypes thrombophilia gene polymorphism Medicine R I. S. Fevraleva verfasserin aut E. E. Karpov verfasserin aut N. V. Sadykova verfasserin aut M. S. Sampiev verfasserin aut A. V. Golobokov verfasserin aut G. V. Mishin verfasserin aut D. Yu. Petrovskiy verfasserin aut A. A. Koroleva verfasserin aut G. M. Galstyan verfasserin aut A. B. Sudarikov verfasserin aut V. Yu. Zorenko verfasserin aut In Сибирский научный медицинский журнал Russian Academy of Sciences, Siberian Branch Publishing House, 2020 39(2019), 1, Seite 106-111 (DE-627)1760636363 24102520 nnns volume:39 year:2019 number:1 pages:106-111 https://doi.org/10.15372/SSMJ20190115 kostenfrei https://doaj.org/article/a58242bb3c574a72918378882c15c458 kostenfrei https://sibmed.elpub.ru/jour/article/view/114 kostenfrei https://doaj.org/toc/2410-2512 Journal toc kostenfrei https://doaj.org/toc/2410-2520 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ AR 39 2019 1 106-111 |
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10.15372/SSMJ20190115 doi (DE-627)DOAJ081057776 (DE-599)DOAJa58242bb3c574a72918378882c15c458 DE-627 ger DE-627 rakwb rus T. Yu. Polyanskaya verfasserin aut POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. hemophilia hemophilia phenotypes thrombophilia gene polymorphism Medicine R I. S. Fevraleva verfasserin aut E. E. Karpov verfasserin aut N. V. Sadykova verfasserin aut M. S. Sampiev verfasserin aut A. V. Golobokov verfasserin aut G. V. Mishin verfasserin aut D. Yu. Petrovskiy verfasserin aut A. A. Koroleva verfasserin aut G. M. Galstyan verfasserin aut A. B. Sudarikov verfasserin aut V. Yu. Zorenko verfasserin aut In Сибирский научный медицинский журнал Russian Academy of Sciences, Siberian Branch Publishing House, 2020 39(2019), 1, Seite 106-111 (DE-627)1760636363 24102520 nnns volume:39 year:2019 number:1 pages:106-111 https://doi.org/10.15372/SSMJ20190115 kostenfrei https://doaj.org/article/a58242bb3c574a72918378882c15c458 kostenfrei https://sibmed.elpub.ru/jour/article/view/114 kostenfrei https://doaj.org/toc/2410-2512 Journal toc kostenfrei https://doaj.org/toc/2410-2520 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ AR 39 2019 1 106-111 |
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10.15372/SSMJ20190115 doi (DE-627)DOAJ081057776 (DE-599)DOAJa58242bb3c574a72918378882c15c458 DE-627 ger DE-627 rakwb rus T. Yu. Polyanskaya verfasserin aut POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. hemophilia hemophilia phenotypes thrombophilia gene polymorphism Medicine R I. S. Fevraleva verfasserin aut E. E. Karpov verfasserin aut N. V. Sadykova verfasserin aut M. S. Sampiev verfasserin aut A. V. Golobokov verfasserin aut G. V. Mishin verfasserin aut D. Yu. Petrovskiy verfasserin aut A. A. Koroleva verfasserin aut G. M. Galstyan verfasserin aut A. B. Sudarikov verfasserin aut V. Yu. Zorenko verfasserin aut In Сибирский научный медицинский журнал Russian Academy of Sciences, Siberian Branch Publishing House, 2020 39(2019), 1, Seite 106-111 (DE-627)1760636363 24102520 nnns volume:39 year:2019 number:1 pages:106-111 https://doi.org/10.15372/SSMJ20190115 kostenfrei https://doaj.org/article/a58242bb3c574a72918378882c15c458 kostenfrei https://sibmed.elpub.ru/jour/article/view/114 kostenfrei https://doaj.org/toc/2410-2512 Journal toc kostenfrei https://doaj.org/toc/2410-2520 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ AR 39 2019 1 106-111 |
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Polyanskaya</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. 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T. Yu. Polyanskaya misc hemophilia misc hemophilia phenotypes misc thrombophilia gene polymorphism misc Medicine misc R POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS |
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POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS hemophilia hemophilia phenotypes thrombophilia gene polymorphism |
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POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS |
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T. Yu. Polyanskaya I. S. Fevraleva E. E. Karpov N. V. Sadykova M. S. Sampiev A. V. Golobokov G. V. Mishin D. Yu. Petrovskiy A. A. Koroleva G. M. Galstyan A. B. Sudarikov V. Yu. Zorenko |
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polymorphism of thrombophilia genes and their role in development of different disease phenotypes and thrombotic complications in hemophilia patients |
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POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS |
| abstract |
Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. |
| abstractGer |
Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. |
| abstract_unstemmed |
Objective was to study genetic markers of thrombophilia in patients with hemophilia, which can affect the course of the disease and contribute to thrombotic complications. Material and methods. The study included 96 patients with severe hemophilia: 75 (78.1 %) – hemophilia A, 16 (16.7 %) – hemophilia B, 5 (5.2 %) – hemophilia with inhibitor form. All patients were with severe hemophilic arthropathyand and underwent knee or hip replacement. The average age of patients was 39.6 years. All patients were examined for markers of thrombophilia. Results. Ninety three patients had either a heterozygous or homozygous form of thrombophilia marker polymorphism. One of thrombophilia markers was present in 15 (15.6 %) patients and in 78 (81.3 %) there was a combination of several markers. In patients with hemophilia B homozygous mutations in the MTHFR gene (A1298C and C677T) were more than 2 times more frequent than in patients with hemophilia A. Conclusion. The frequency of occurrence of polymorphism of FV (G1691A), MTHFR (C677T) and PAI-1 in the studied group of patients with hemophilia is higher than in the general Russian population. |
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POLYMORPHISM OF THROMBOPHILIA GENES AND THEIR ROLE IN DEVELOPMENT OF DIFFERENT DISEASE PHENOTYPES AND THROMBOTIC COMPLICATIONS IN HEMOPHILIA PATIENTS |
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I. S. Fevraleva E. E. Karpov N. V. Sadykova M. S. Sampiev A. V. Golobokov G. V. Mishin D. Yu. Petrovskiy A. A. Koroleva G. M. Galstyan A. B. Sudarikov V. Yu. Zorenko |
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