The absence of a high-affinity thiamine transporter can result in thiamine-responsive megaloblastic anemia (TRMA) and other findings related to intracellular thiamine deficiency.

Chromosome: 1q23.23.3


Gene affected: high-affinity thiamine transporter (SLC19A2)


Inheritance: autosomal recessive



(1) thiamine-responsive megaloblastic anemia (TRMA)

(2) sensorineural deafness

(3) diabetes mellitus or abnormal glucose tolerance

(4) low alpha-ketoglutarate activity


The anemia responds to pharmacologic doses of thiamine. It is may be described as a sideroblastic anemia with secondary megaloblastic changes.

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