Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome, also known as Rogers syndrome, is a very rare inherited disorder of a thiamine transporter, passed on in an autosomal recessive pattern. It is characterised by megaloblastic anemia, diabetes mellitus and progressive sensorineural hearing loss, and some patients also have optic atrophy, short stature, an enlarged liver and spleen or heart rhythm problems. It is caused by variants in the SLC19A2 gene, which makes the protein that carries thiamine into cells. The anemia responds to high daily doses of oral thiamine, vitamin B1, and early treatment can delay the onset of diabetes, although many patients still need insulin and the effect on hearing is unclear. The condition was first described in 1969 by Lon E. Rogers, a pediatric hematologist in Dallas, Texas. Roughly two hundred people have been described in the medical literature.