nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2025-12-4-68-75nodgo-1234Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESОпыт проведения аллогенной трансплантации гемопоэтических стволовых клеток у пациента с гемолитической анемией вследствие нестабильного гемоглобина Calgary (HBB: c.194G>T)Experience of allogeneic hematopoietic stem cell transplantation in a pediatric patient with hemolytic anemia due to unstable hemoglobin Calgary (HBB: c.194G>T)https://orcid.org/0000-0002-7531-6443ОльховаЛ. В.OlkhovaL. V.

к.м.н., врач – детский онколог, гематолог отделения трансплантации костного мозга

119572, Москва, Ленинский проспект, 117

Cand. of Sci. (Med.), Pediatric Oncologist, Hematologist of Department of Bone Marrow Transplantation

117 Leninskiy Prosp., Moscow, 117997

rylkova87@mail.ruhttps://orcid.org/0000-0003-4431-1444СкоробогатоваЕ. В.SkorobogatovaE. V.

д.м.н., заведующая отделением трансплантации костного мозга

119572, Москва, Ленинский проспект, 117

Dr. of Sci. (Med.), Head of the Department of Bone Marrow Transplantation 

117 Leninskiy Prosp., Moscow, 117997

skorobog.e@mail.ruРоссийская детская клиническая больница – филиал ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияRussian Children’s Clinical Hospital – Branch of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian FederationRussian Federation2025140120261246875Copyright © Ольхова Л.В., Скоробогатова Е.В., 20262026Ольхова Л.В., Скоробогатова Е.В.Olkhova L.V., Skorobogatova E.V.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/1234

В данной статье описан единственный в России случай нестабильного гемоглобина Calgary у двухлетнего русского мальчика с тяжелой трансфузионно-зависимой анемией, возникшей в результате точечной de novo мутации гена β-глобина (HBB: c.194G>T). Сочетание клинической картины тяжелой анемии, протекающей по типу большой формы β-талассемии, с отсутствием специфических лабораторных признаков затруднило диагностический поиск, который был завершен только благодаря современным молекулярно-генетическим методам. В настоящее время единственным радикальным методом терапии трансфузионно-зависимых гемоглобинопатий является проведение аллогенной трансплантации гемопоэтических стволовых клеток. Представлен обзор литературы, демонстрирующий общие сведения о заболевании, данные международных источников о проведении аллогенной трансплантации гемопоэтических стволовых клеток при нестабильных гемоглобинопатиях, а также собственный опыт успешного применения данного метода.

This article describes the only case of unstable hemoglobin Calgary in Russia in a two-year-old Russian boy with severe transfusiondependent anemia caused by a de novo point mutation in the β-globin gene (HBB: c.194G>T). The combination of the clinical picture of severe anemia, occurring as a major form of β-thalassemia, with the absence of specific laboratory signs complicated the diagnostic search, which was completed only thanks to modern molecular genetic methods. Currently, the only radical method of treating transfusion-dependent hemoglobinopathies is allogeneic hematopoietic stem cell transplantation. A literature review is presented demonstrating general information about the disease, international literature data on allogeneic hematopoietic stem cell transplantation for unstable hemoglobinopathies, as well as our own experience of successful use of this method. The patient's parents have given consent for the use of information, including photographs of the child, in scientific research and publications.

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