Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome (also known as Rogers syndrome) is a very rare autosomal recessive genetic disorder affecting a thiamine transporter, which is characterized by megaloblastic anemia, diabetes mellitus, and hearing loss. The condition is treated with high doses of thiamine (vitamin B1).

In most cases (80-99%), people with this condition experience poor appetite (anorexia), diarrhea, headache, and lethargy.^[1] Thiamine responsive megaloblastic anemia syndrome is associated with progressive sensorineural hearing loss. Additional manifestations include optic atrophy, short stature, enlarged liver, and an enlarged spleen.^[2] Some cases may affect the heart, leading to abnormal heart rhythms.^[3]

The condition is inherited in an autosomal recessive fashion, and is caused by a mutation in the SLC19A2 gene.^[1]

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Treatment consists of high doses of oral thiamine. Treatment can delay the onset of diabetes mellitus, and reverses anemia. If treatment is initiated early, thiamine deficiency can be prevented.^{[citation needed]}

The condition was first described in 1969 by Dr. Lon E. Rogers, a pediatric hematologist in Dallas, Texas.^{[citation needed]}