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Article

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report.

Journal of medical case reports - 16 Mar 2026

Jiménez Francisco Xavier, Rojas Carlos, Fernandez Heidi A, Ruiz-Urbáez Rossana, Reyes-Silva Carlos, Guamán Jhonatan, Carrión Mauricio, Naranjo-Saltos Fernando

Abstract excerpt

BACKGROUND: Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene. It is characterized by a classical triad of megaloblastic anemia, insulin-dependent diabetes mellitus, and sensorineural hearing loss. We present the case of a woman diagnosed with thiamine-responsive megaloblastic anemia, with no history of consanguinity,...

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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: 41840683
DOI: 10.1186/s13256-026-05960-w
PMCID: PMC13104279

Genes

SLC19A2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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