Thiamine-responsive megaloblastic anaemia syndrome – A case report

Abstract

Thiamine is a water-soluble vitamin which is helpful for tissue growth and development. Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is caused by the mutation of a gene SLC19A2 which encodes for a thiamine transporter protein. TRMA is characterised by the triad of megaloblastic anaemia, progressive sensorineural hearing loss and diabetes mellitus. The onset of megaloblastic anaemia is between the extremes of infancy and adolescence, which can be corrected with pharmacological doses of thiamine. Progressive sensorineural hearing loss is generally early in onset, irreversible and may not be prevented by thiamine treatment.