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Article

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

The Turkish journal of pediatrics - 1 Jan 2000

Onal Hasan, Bariş Safa, Ozdil Mine, Yeşil Gözde, Altun Gürkan, Ozyilmaz Isa, Aydin Ahmet, Celkan Tiraje

Abstract excerpt

Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the clinical features associated with thiamine-responsive megaloblastic anemia syndrome in which treatment with pharmacological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 19817279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.Semantic proximity Read ↗

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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.Semantic proximity Read ↗

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