Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children112110.24287/j.1121MECVWSLITERATURE REVIEWОБЗОР ЛИТЕРАТУРЫReview ArticleThiamine-responsive megaloblastic anemiaТиамин-зависимая мегалобластная анемияhttps://orcid.org/0000-0002-0411-9485GurzhikhanovaMedina Kh.ГуржихановаМедина Хароновна
Russian Federation

a junior researcher at the Department of Optimization of Treatment and Prevention of Complications after Hematopoietic Stem Cell Transplantation

младший научный сотрудник отдела оптимизации лечения и профилактики осложнений трансплантации гемопоэтических стволовых клеток

medina.gurzhihanova@dgoi.ruhttps://orcid.org/0000-0003-1735-0093MaschanM. A.МасчанМ. А.
Russian Federation
medina.gurzhihanova@dgoi.ruThe Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России300620262521831902904202605052026Copyright ©; 2026, «D. Rogachev NMRCPHOI»Copyright ©; 2026, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2026«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/1121

Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disorder first described by Dr. Lon E. Rogers et al. in 1969. This condition is defined by a classic triad of symptoms comprising megaloblastic anemia, diabetes mellitus and sensorineural hearing loss, although clinically it can still exhibit considerable phenotypic heterogeneity. The rarity of this disorder, with fewer than 200 affected individuals reported globally, coupled with its variable clinical manifestations, often leads to delayed or wrong diagnosis. TRMA is caused by mutations affecting the SLC19A2 gene which encodes the high-affinity thiamine transporter 1 essential for cellular thiamine uptake. While some manifestations of TRMA, particularly blood disorders and diabetes mellitus, respond well to high-dose thiamine supplementation, other symptoms such as sensorineural hearing loss remain irreversible.

Тиамин-зависимая мегалобластная анемия (TRMA), также известная как синдром Роджерса, является редким аутосомно-рецессивным заболеванием, впервые описанным доктором Лоном Роджерсом и его коллегами в 1969 г. Это заболевание характеризуется классической триадой симптомов, включающей мегалобластную анемию, сахарный диабет и нейросенсорную (сенсоневральную) тугоухость, хотя клиническая картина может также демонстрировать значительную фенотипическую гетерогенность. Редкость заболевания (по опубликованным данным, в мире описано менее 200 клинических случаев) в сочетании с его разнообразными клиническими проявлениями часто приводит к запоздалой или ошибочной диагностике. В основе TRMA лежат мутации, поражающие ген SLC19A2, который кодирует высокоаффинный транспортер тиамина 1, необходимый для поглощения тиамина клетками. Хотя некоторые симптомы TRMA, в частности гематологические и сахарный диабет, хорошо поддаются лечению высокими дозами тиамина, другие симптомы, такие как сенсоневральная тугоухость, являются необратимыми.

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