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Article

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an SLC19A2 c.1223+1G>A Founder Mutation.

International journal of molecular sciences - 14 Jul 2026

Gurzhikhanova Medina, Fomenko Sergei, Chekanov Nikolay, Musharova Olga, Salimova Tatyana, Goronkova Olga, Abasov Ruslan, Raykina Elena, Zinchenko Rena, Sharova Margarita, Khisamieva Fizaliia, Imyanitov Evgeny, Sokolenko Anna, Klimuk Evgeny, Maschan Alexey, Severinov Konstantin, Maschan Michael

Abstract excerpt

Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by biallelic loss of function variants in the SLC19A2 gene. It typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. In this work, we analyzed ten children with suspected TRMA: nine exhibited the full triad and one, a younger sibling of a patient with full triad, did not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42511616
DOI: 10.3390/ijms27146274
PMCID: PMC13409991

Genes

SLC19A2
ATP1B1
FMO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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