nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2025-12-3-56-67nodgo-1228Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSСовременные подходы к лечению β-талассемии: от переливания крови до генной терапииModern therapeutic approaches for β-thalassemia: from blood transfusion to gene therapyhttps://orcid.org/0009-0005-9984-7248ДолгушинаЕ. Н.DolgushinaE. N.

врач-гематолог отделения трансплантации костного мозга для детей с орфанными заболеваниями 

Web of Science ResearcherID: OIT-2953-2025

197022, Санкт-Петербург, ул. Льва Толстого, 6–8

Hematologist, Department of Bone Marrow Transplantation for Children with Rare Diseases

Web of Science ResearcherID: OIT-2953-2025

6–8 Lev Tolstoy St., Saint Petersburg, 197022

dr.dolgushinaen@gmail.comhttps://orcid.org/0000-0002-2645-3433КоптеваО. С.KoptevaO. S.

лаборант, младший научный сотрудник лаборатории генной и клеточной терапии 

Web of Science ResearcherID: HPF-2919-2023

197022, Санкт-Петербург, ул. Льва Толстого, 6–8

Laboratory Assistant, Junior Researcher, Laboratory of Gene and Cell Therapy

Web of Science ResearcherID: HPF-2919-2023

6–8 Lev Tolstoy St., Saint Petersburg, 197022

olga.s.kopteva@yandex.ruhttps://orcid.org/0000-0003-3767-6840ШакироваА. И.ShakirovaA. I.

к.б.н., заведующая лабораторией генной и клеточной терапии 

Web of Science ResearcherID: N-8839-2017

197022, Санкт-Петербург, ул. Льва Толстого, 6–8

Cand. of Sci. (Biol.), Head of the Laboratory of Gene and Cell Therapy

Web of Science ResearcherID: N-8839-2017

6–8 Lev Tolstoy St., Saint Petersburg, 197022

alyona.i.shakirova@gmail.comhttps://orcid.org/0000-0002-4056-050XЛепикК. В.LepikK. V.

к.м.н., руководитель отдела биотехнологий 

Web of Science ResearcherID: Q-2596-2017

197022, Санкт-Петербург, ул. Льва Толстого, 6–8

Cand. of Sci. (Med.), Head of the Biotechnology Department

Web of Science ResearcherID: Q-2596-2017

6–8 Lev Tolstoy St., Saint Petersburg, 197022

lepikkv@gmail.comhttps://orcid.org/0000-0002-4456-2369БыковаТ. А.BykovaT. A.

к.м.н., заместитель директора по педиатрии 

Web of Science ResearcherID: AAH-9770-2021

197022, Санкт-Петербург, ул. Льва Толстого, 6–8

Cand. of Sci. (Med.), Deputy Director for Pediatrics

Web of Science ResearcherID: AAH-9770-2021

6–8 Lev Tolstoy St., Saint Petersburg, 197022

dr.bykova@mail.ruhttps://orcid.org/0000-0003-2594-7703ЗубаровскаяЛ. С.ZubarovskayaL. S.

д.м.н., профессор, заместитель директора по трансплантации 

Web of Science ResearcherID: ABC-8759-2021

 

Dr. of Sci. (Med.), Professor, Deputy Director for Transplantation

Web of Science ResearcherID: ABC-8759-2021

6–8 Lev Tolstoy St., Saint Petersburg, 197022

zubarovskaya_ls@mail.ruhttps://orcid.org/0000-0002-9589-4136КулагинА. Д.KulaginA. D.

д.м.н., профессор, директор 

Web of Science ResearcherID: L-9795-2014

197022, Санкт-Петербург, ул. Льва Толстого, 6–8

Dr. of Sci. (Med.), Professor, Director 

Web of Science ResearcherID: L-9795-2014

6–8 Lev Tolstoy St., Saint Petersburg, 197022

kulagingem@rambler.ruНаучно-исследовательский институт детской онкологии, гематологии и трансплантологии имени Р.М. Горбачевой ФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет имени академика И.П. Павлова» Минздрава РоссииРоссияRaisa Gorbacheva Memorial Research Institute of Children Oncology, Hematology and Transplantation, First Pavlov State Medical University of Saint Petersburg, Ministry of Health of RussiaRussian Federation2025140120261245667Copyright © Долгушина Е.Н., Коптева О.С., Шакирова А.И., Лепик К.В., Быкова Т.А., Зубаровская Л.С., Кулагин А.Д., 20262026Долгушина Е.Н., Коптева О.С., Шакирова А.И., Лепик К.В., Быкова Т.А., Зубаровская Л.С., Кулагин А.Д.Dolgushina E.N., Kopteva O.S., Shakirova A.I., Lepik K.V., Bykova T.A., Zubarovskaya L.S., Kulagin A.D.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/1228

Бета-талассемия – наследственное заболевание, обусловленное патогенными вариантами в гене HBB, которые ведут к нарушению синтеза β-цепей глобина, приводящему к неэффективному эритропоэзу, развитию микроцитарной гипохромной анемии и комплексу системных осложнений. В статье рассмотрены современные стратегии терапии этого состояния. Адекватная гемотрансфузионная поддержка в сочетании с регулярной хелаторной терапией традиционно остается основой стандартного лечения. В современной практике также применяются другие методы консервативной терапии, например, направленные на индукцию фетального гемоглобина, стимуляцию эритропоэза и другие звенья патогенеза. Аллогенная трансплантация гемопоэтических стволовых клеток до недавнего времени являлась единственным методом, способным обеспечить полное излечение β-талассемии, однако ее применение ограничено доступностью полностью совместимого донора и рисками трансплантационных осложнений, в том числе высокий риск неприживления трансплантата при данной патологии, реакции «трансплантат против хозяина». Развитие генной терапии, направленной на восстановление синтеза β-глобина или индукцию экспрессии фетального гемоглобина, открывает перспективы функционального излечения без необходимости выполнения аллогенной трансплантации гемопоэтических стволовых клеток, что преодолевает многие ее ограничения, в том числе отсутствие оптимального донора, реакции «трансплантат против хозяина» и отторжение трансплантата. В обзоре представлен анализ существующих методов лечения, их ограничений и возможностей клинического применения генной терапии при β-талассемии.

Beta-thalassemia is a hereditary disorder caused by pathogenic variants in the HBB gene that lead to impaired synthesis of β-globin chains, resulting in ineffective erythropoiesis, development of microcytic hypochromic anemia, and a complex of systemic complications. This article reviews current therapeutic strategies for this condition. Adequate transfusion support combined with regular chelation therapy remains the cornerstone of standard treatment. In current practice, other methods of conservative therapy are also used, such as those targeting fetal hemoglobin induction, stimulation of erythropoiesis, and other pathogenetic mechanisms. Allogeneic hematopoietic stem cell transplantation was until recently the only method capable of providing a complete cure for β-thalassemia. However, its application is limited by the availability of a fully compatible donor and the risks of transplantation complications, including a high risk of graft failure in this disease and graft-versushost disease. The development of gene therapy aimed at restoring β-globin synthesis or inducing fetal hemoglobin expression offers prospects for functional cure without the need for allogeneic hematopoietic stem cell transplantation, overcoming many of its limitations, including the lack of an optimal donor, graft-versus-host disease, and graft rejection. This review provides an analysis of existing treatment methods, their limitations, and the potential for clinical application of gene therapy in β-thalassemia.

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The authors declare that there are no conflicts of interest present.