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Thiamine responsive megaloblastic anemia: the puzzling phenotype.

Pediatric blood & cancer - 1 Mar 2014

Beshlawi Ismail, Al Zadjali Shoaib, Bashir Wafa, Elshinawy Mohamed, Alrawas Abdulhakim, Wali Yasser

Abstract excerpt

BACKGROUND: Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with TRMA. Our aim is to discuss the clinical manifestations of all Omani children diagnosed with TRMA and determine...

Topics

Anemia, Megaloblastic
Diabetes Mellitus
Female
Hearing Loss, Sensorineural
Humans
Infant
Male
Mutation
Phenotype
Retrospective Studies
Thiamine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24249281
DOI: 10.1002/pbc.24849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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