Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children102310.24287/1726-1708-2025-24-2-140-146ZAEOUCLITERATURE REVIEWОБЗОР ЛИТЕРАТУРЫReview ArticleNew therapeutic options for the treatment of transfusion-dependent Diamond-Blackfan anemiaНовые терапевтические опции для лечения трансфузионно-зависимой формы анемии Даймонда-Блекфенаhttps://orcid.org/0000-0001-8166-1158BataevAli S.БатаевАли Саидхасанович
Russian Federation
ali.bataev@dgoi.ruhttps://orcid.org/0009-0000-6734-0331KlyukhinVladislav V.КлюхинВладислав Валерьевич
Russian Federation
nccxbak@mail.ruhttps://orcid.org/0000-0003-2756-7325SmetaninaNatalia S.СметанинаНаталия Сергеевна
Russian Federation

MD, Dr. Sci. (Medicine), Professor

д-р мед. наук, профессор

Nataliya.Smetanina@dgoi.ruDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and ImmunologyФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России08092025300620252421401460809202508092025Copyright ©; 2025, «D. Rogachev NMRCPHOI»Copyright ©; 2025, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2025«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/1023

Diamond-Blackfan anaemia is a rare congenital bone marrow failure syndrome characterized by suppression of erythropoiesis due to intense apoptosis of erythroid precursors resulting from defective ribosome biosynthesis. Classic options for the treatment of Diamond-Blackfan anaemia include long-term glucocorticosteroid therapy and transfusion of donor red blood cells. However, these approaches eventually lead to late adverse events, which stimulates the search for alternative therapies. In this paper, we review the current knowledge of the pathogenesis and therapy of this disease.

Анемия Даймонда-Блекфена - редкое заболевание из группы врожденных синдромов костномозговой недостаточности, характерной чертой которого является угнетение эритропоэза, обусловленное интенсивными процессами апоптоза эритроидных предшественников вследствие дефекта биосинтеза рибосом. Классические опции при терапии анемии Даймонда-Блекфена включают в себя длительное применение глюкокортикостероидов и трансфузии донорских эритроцитов, однако такие подходы в долгосрочной перспективе приводят к развитию отдаленных неблагоприятных событий, что стимулирует поиск альтернативных методов терапии. В данной работе рассмотрены современные представления об этиопатогенезе и терапии этого заболевания.

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