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Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.

Laboratory medicine - 3 Nov 2022

Mohsen-Pour Neda, Naderi Niloofar, Ghasemi Serwa, Hesami Mahshid, Maleki Majid, Kalayinia Samira

Abstract excerpt

OBJECTIVE: Solute carrier family 19 member 2 (SLC19A2, OMIM *603941) encodes thiamine human transporter 1 (THTR-1), which contributes to bringing thiamine (vitamin B1) into cells. Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome. METHODS: An Iranian family with TRMA was investigated by whole-exome sequencing (WES) to determine the...

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PMID: 35686496
DOI: 10.1093/labmed/lmac040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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