Mutations in the SLC19A2 gene, encoding thiamine transporter 1 (THTR1), were reported to be associated with thiamine-responsive megaloblastic anemia (TRMA) (Scharfe et al., 2000; Ozdemir et al., 2002; Ghaemi et al., 2013; Setoodeh et al., 2013; Sun et al., 2018; Amr et al., 2019), which is characterized by early-onset diabetes mellitus, anemia, and sensorineural deafness. The gene discussed is SLC19A2; the disease is anemia (phenotype).