Thiamine-responsive megaloblastic anemia (TRMA), a rare syndrome characterized by diabetes, anemia, and sensorineural deafness was described in 1978 [11], and later associated with a defect in the SLC19A2 gene encoding for thiamine transporter-1 (THTR1) [12]. The gene discussed is SLC19A2; the disease is thiamine-responsive megaloblastic anemia syndrome.