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
Features:
(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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Specialty: Hematology Oncology, Clinical Laboratory, Nutrition, Gastroenterology
