Гемофилия: көйгөйлөр жана жетишкендиктер (адабияттарга сереп)

Назгуль Жапарова; Эрбол Садабаев; Аида Нартаева; Арзыкан Алишерова; Сагынали Маматов

Аннотация

Гемофилия – бул жыныска байланыштуу тукум куучулук схемасы бар геморрагиялык оору, ал VIII кан уюу факторунун (гемофилия А же классикалык гемофилия) же IX факторунун (гемофилия В) жетишсиздигинен улам кандын уюшун күчөтө албагандыгы менен мүнөздөлөт. Гемофилияга катышкан гендердин ырааттуулугу бизге негизги мутацияларды сүрөттөп, документтештирүүгө жана оорунун ар кандай деңгээлдеги оордугу менен корреляцияларды аныктоого мүмкүндүк берди. Геморрагиялык көрүнүштөр кан айлануу факторлорунун деңгээлине байланыштуу, негизинен таяныч-кыймыл системасына, айрыкча чоң муундарга (тизе, томук жана чыканак) таасир этет. Бул документте тукум куучулук схемаларынан баштап аялдардагы алып жүрүүчү статусунун концепциясына чейин, оорунун патофизиологиясы жана классификациясы, шектүү гемофилия үчүн негизги жана ырастоочу изилдөөлөр, жетишсиз кан уюу факторун куюуга негизделген ар кандай дарылоо режимдери, ошондой эле инновациялык факторсуз терапиялар жана дарылоого байланыштуу кыйынчылыктарды, ингибитордун өнүгүшүн жана/же кан куюу аркылуу жугуучу инфекцияларды башкаруу боюнча сунуштар камтылган. Гемофилия менен ооругандарды дарылоо стратегиясы катары комплекстүү кам көрүүнүн мааниси дүйнө жүзү боюнча таанылган. Комплекстүү кам көрүү бейтаптарга жана алардын үй-бүлөлөрүнө тиешелүү медициналык жана психологиялык аспектилердин толук спектрин чечүүнү камтыйт

Негизги сөздөр

гемофилия; VIII жана IX кан уюу факторлору; дарылоо; алдын алуу

Цитаталоо

APA Style

Zhaparova, N., Sadabaev, E., Nartaeva, A., Alisherova, A. & Mamatov, S. (2025). Haemophilia: Problems and achievements (literature review). Eurasian Health Journal, 17(4), 96-114. https://doi.org/10.54890/1694-8882-2025-4-96

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Vancouver Style

Zhaparova, N., Sadabaev, E., Nartaeva, A., Alisherova, A., Mamatov, S.. Haemophilia: Problems and achievements (literature review). Eurasian Health J. 2025;17(4):96-114. https://doi.org/10.54890/1694-8882-2025-4-96

Copied!

Колдонулган булактар

Berntorp E, Shapiro AD. Modern haemophilia care. Lancet. 2012;14:379(9824):1447–6. DOI:10.1016/S0140 6736(11)61139-2
Bolous NS, Bhatt N, Bhakta N, Neufeld EJ, Davidoff, AM, Reiss UM. Gene therapy and hemophilia: Where do we go from here? J Blood Med. 2022;13:559–80. DOI:10.2147/JBM.S371438
Schramm W. The history of haemophilia - a short review. Thromb Res. 2014 Nov;134(Suppl 1):S4–9. DOI:10.1016/j.thromres.2013.10.020
Rogaev EI, Grigorenko AP, Moliaka YK, Faskhutdinova G, Goltsov A, Lahti A, et al. Genomic identification in the historical case of the nicholas ii royal family. Proc Natl Acad Sci USA. 2009;106(13):5258–63. DOI:10.1073/ pnas.0811190106
Chávez JG, Cruz AM. Hemofilia: review of the past and present. Gac Med Mex. 2013;149(3):308–21. DOI:10.15406/htij.2024.12.00333
Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014;12(11):1935–9. DOI:10.1111/ jth.12672
Zimmerman B, Valentino LA. Hemophilia: In review. Pediatr Rev. 2013;34(7):289–95. DOI:10.1542/pir.34-7 289
Hartmann J, Croteau SE. 2017 Clinical trials update: Innovations in hemophilia therapy. Am J Hematol. 2016;91(12):1252–60. DOI:10.1002/ajh.24543
Ramaswamy S, Tonnu N, Tachikawa K, Limphong P, Vega JB, Karmali PP, et al. Systemic delivery of factor IX messenger RNA for protein replacement therapy. Proc Natl Acad Sci USA. 2017;114(10):E1941–50. DOI:10.1073/pnas.1619653114
Kershaw G. Detection and measurement of factor inhibitors. Methods Mol Biol. 2017;1646:295–304. DOI:10.1007/978-1-4939-7196-1_23
Jarres RK, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, et al. Acquired hemophilia A: Updated review of evidence and treatment guidance. Am J Hematol. 2017;92(7):695–705. DOI:10.1002/ajh.24777
Brunetta DM, Silva FAC, Vasconcelos JBM, de Albuquerque Ribeiro R, Mesquita DFG, Coelho GR, et al. Hemophilia B acquired through liver transplantation. Liver Transpl. 2016;22(2):254–6. DOI:10.1002/lt.24364
Miller CH, Benson J, Ellingsen D, Driggers AP, Kelly FM, Soucie JM, et al. F8 and F9 mutations in US haemophilia patients: Correlation with history of inhibitor and race/ ethnicity. Haemophilia. 2012;18(3):375–82. DOI:10.1111/j.1365-2516.2011.02700.x
Chuansumrit A, Ruchutrakul T, Sirachainan N, Kitpoka P, Panuwannakorn M, Panburana P, et al. National strategic advocacy to manage patients with inherited bleeding disorders in low and lower-middle income countries. Expert Rev. Hematol. 2023;16(12):1063–76. DOI:10.1080/17474086.2023.2293092
Witmer C, Young G. Factor VIII inhibitors in hemophilia A: rationale and latest evidence. Ther Adv Hematol. 2013;4(1):59–72. DOI:10.1177/2040620712464509
Qu C, Liu W, Chen L, Zhang L, Xue F, Yang R. Analysis of hospitalization of people withhemophilia-12 years of experience in a single center. Res. Pract. Thromb. Haemostasis. 2022;6(5):e12764. DOI:10.1002/ rth2.12764
Lorio A, Halimeh S, Holzhauer S, Goldenberg N, Marchesini E, Marcucci M, et al. Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: A systematic review. J Thromb Haemost. 2010;8(6):1256–65. DOI:10.1111/j.1538 7836.2010.03823.x
Balkaransingh P, Young G. Novel therapies and current clinical progress in hemophilia A. Ther Adv Hematol. 2018;9(2):49–61. DOI:10.1177/2040620717746312
Fosbury E, Drebes A, Ridell A, Chowdary P. Review of recombinant antihaemophilic porcine sequence factor VIII in adults with acquired haemophilia A. Ther Adv Hematol. 2017;8(9):263–72. DOI:10.1177/2040620717720861
Zanon E, Milan M, Gamba G, Ambagilo C, Saggiorato G, Spiezia L, et al. Activated prothrombin complex concéntrate (FEIBA®) for the treatment and prevention of bleeding in patients with acquired haemophilia: A sequential study. Thromb Res. 2015;136(6):1299–302. DOI:10.1016/j.thromres.2015.10.032
Qi X, Zhao Y, Li K. Evaluating and monitoring the efficacy of recombinant activate factor VIIa in patients with haemophilia and inhibitors. Blood Coagul Fibrinolysis. 2014;25(7):754–60. DOI:10.1097/ MBC.0000000000000137
Eter J, Lenting C. Emicizumab, a bispecific antibody recognizing coagulation factors IX and X: How does it actually compare to factor VIII? Blood. 2017;130(23):2463–8. DOI:10.1182/blood-2017-08-801662
Benton M, Patel AM, Shi L, Monnette A, Hong D, Kruse-Jarres R, et al. Assessing patient and caregiver preferences for treatment of haemophilia A: a discrete choice experiment. Haemophilia. 2021;27(4):e479–83. DOI:10.1111/hae.14185
Doshi BS, Arruda VR. Gene therapy for hemophilia: what does the future hold? Ther Adv Hematol. 2018;9(9):273–93. DOI:10.1177/2040620718791933
Zorenko VYu, Makhmudova AD, Schiller EE, Polyanskaya TYu, Berger IV, Zhuraeva NT, et al. First modern Russian plasma-derived coagulation factor VIII concentrate (Eytoplasm): Results of clinical study of pharmacokinetics, efficacy and safety. Russ J Hematol Transfus. 2024;69(4):451–62. DOI:10.35754/0234-5730-2024-69-4-451 462
Berntorp E, Hermans C, Solms A, Poulsen L, Mancuso ME. Optimising prophylaxis in haemophilia A: The ups and downs of treatment. Blood Rev. 2021;50:100852. DOI:10.1016/j.blre.2021.100852

[1] Berntorp E, Shapiro AD. Modern haemophilia care. Lancet. 2012;14:379(9824):1447–6. DOI:10.1016/S0140 6736(11)61139-2

[2] Bolous NS, Bhatt N, Bhakta N, Neufeld EJ, Davidoff, AM, Reiss UM. Gene therapy and hemophilia: Where do we go from here? J Blood Med. 2022;13:559–80. DOI:10.2147/JBM.S371438

[3] Schramm W. The history of haemophilia - a short review. Thromb Res. 2014 Nov;134(Suppl 1):S4–9. DOI:10.1016/j.thromres.2013.10.020

[4] Rogaev EI, Grigorenko AP, Moliaka YK, Faskhutdinova G, Goltsov A, Lahti A, et al. Genomic identification in the historical case of the nicholas ii royal family. Proc Natl Acad Sci USA. 2009;106(13):5258–63. DOI:10.1073/ pnas.0811190106

[5] Chávez JG, Cruz AM. Hemofilia: review of the past and present. Gac Med Mex. 2013;149(3):308–21. DOI:10.15406/htij.2024.12.00333

[6] Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014;12(11):1935–9. DOI:10.1111/ jth.12672

[7] Zimmerman B, Valentino LA. Hemophilia: In review. Pediatr Rev. 2013;34(7):289–95. DOI:10.1542/pir.34-7 289

[8] Hartmann J, Croteau SE. 2017 Clinical trials update: Innovations in hemophilia therapy. Am J Hematol. 2016;91(12):1252–60. DOI:10.1002/ajh.24543

[9] Ramaswamy S, Tonnu N, Tachikawa K, Limphong P, Vega JB, Karmali PP, et al. Systemic delivery of factor IX messenger RNA for protein replacement therapy. Proc Natl Acad Sci USA. 2017;114(10):E1941–50. DOI:10.1073/pnas.1619653114

[10] Kershaw G. Detection and measurement of factor inhibitors. Methods Mol Biol. 2017;1646:295–304. DOI:10.1007/978-1-4939-7196-1_23

[11] Jarres RK, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, et al. Acquired hemophilia A: Updated review of evidence and treatment guidance. Am J Hematol. 2017;92(7):695–705. DOI:10.1002/ajh.24777

[12] Brunetta DM, Silva FAC, Vasconcelos JBM, de Albuquerque Ribeiro R, Mesquita DFG, Coelho GR, et al. Hemophilia B acquired through liver transplantation. Liver Transpl. 2016;22(2):254–6. DOI:10.1002/lt.24364

[13] Miller CH, Benson J, Ellingsen D, Driggers AP, Kelly FM, Soucie JM, et al. F8 and F9 mutations in US haemophilia patients: Correlation with history of inhibitor and race/ ethnicity. Haemophilia. 2012;18(3):375–82. DOI:10.1111/j.1365-2516.2011.02700.x

[14] Chuansumrit A, Ruchutrakul T, Sirachainan N, Kitpoka P, Panuwannakorn M, Panburana P, et al. National strategic advocacy to manage patients with inherited bleeding disorders in low and lower-middle income countries. Expert Rev. Hematol. 2023;16(12):1063–76. DOI:10.1080/17474086.2023.2293092

[15] Witmer C, Young G. Factor VIII inhibitors in hemophilia A: rationale and latest evidence. Ther Adv Hematol. 2013;4(1):59–72. DOI:10.1177/2040620712464509

[16] Qu C, Liu W, Chen L, Zhang L, Xue F, Yang R. Analysis of hospitalization of people withhemophilia-12 years of experience in a single center. Res. Pract. Thromb. Haemostasis. 2022;6(5):e12764. DOI:10.1002/ rth2.12764

[17] Lorio A, Halimeh S, Holzhauer S, Goldenberg N, Marchesini E, Marcucci M, et al. Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: A systematic review. J Thromb Haemost. 2010;8(6):1256–65. DOI:10.1111/j.1538 7836.2010.03823.x

[18] Balkaransingh P, Young G. Novel therapies and current clinical progress in hemophilia A. Ther Adv Hematol. 2018;9(2):49–61. DOI:10.1177/2040620717746312

[19] Fosbury E, Drebes A, Ridell A, Chowdary P. Review of recombinant antihaemophilic porcine sequence factor VIII in adults with acquired haemophilia A. Ther Adv Hematol. 2017;8(9):263–72. DOI:10.1177/2040620717720861

[20] Zanon E, Milan M, Gamba G, Ambagilo C, Saggiorato G, Spiezia L, et al. Activated prothrombin complex concéntrate (FEIBA®) for the treatment and prevention of bleeding in patients with acquired haemophilia: A sequential study. Thromb Res. 2015;136(6):1299–302. DOI:10.1016/j.thromres.2015.10.032

[21] Qi X, Zhao Y, Li K. Evaluating and monitoring the efficacy of recombinant activate factor VIIa in patients with haemophilia and inhibitors. Blood Coagul Fibrinolysis. 2014;25(7):754–60. DOI:10.1097/ MBC.0000000000000137

[22] Eter J, Lenting C. Emicizumab, a bispecific antibody recognizing coagulation factors IX and X: How does it actually compare to factor VIII? Blood. 2017;130(23):2463–8. DOI:10.1182/blood-2017-08-801662

[23] Benton M, Patel AM, Shi L, Monnette A, Hong D, Kruse-Jarres R, et al. Assessing patient and caregiver preferences for treatment of haemophilia A: a discrete choice experiment. Haemophilia. 2021;27(4):e479–83. DOI:10.1111/hae.14185

[24] Doshi BS, Arruda VR. Gene therapy for hemophilia: what does the future hold? Ther Adv Hematol. 2018;9(9):273–93. DOI:10.1177/2040620718791933

[25] Zorenko VYu, Makhmudova AD, Schiller EE, Polyanskaya TYu, Berger IV, Zhuraeva NT, et al. First modern Russian plasma-derived coagulation factor VIII concentrate (Eytoplasm): Results of clinical study of pharmacokinetics, efficacy and safety. Russ J Hematol Transfus. 2024;69(4):451–62. DOI:10.35754/0234-5730-2024-69-4-451 462

[26] Berntorp E, Hermans C, Solms A, Poulsen L, Mancuso ME. Optimising prophylaxis in haemophilia A: The ups and downs of treatment. Blood Rev. 2021;50:100852. DOI:10.1016/j.blre.2021.100852