Tag: Rogers syndrome

While most forms of anemia are not treated with thiamine, there is a very rare, genetically inherited condition known as thiamine-responsive megaloblastic anemia (TRMA) for which high-dose thiamine is the primary treatment. For all other common anemias, such as iron-deficiency or vitamin B12 deficiency, thiamine is not an appropriate therapy.

While most cases of macrocytic anemia are due to vitamin B12 or folate deficiency, a much rarer, inherited condition known as Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome directly demonstrates that thiamine deficiency can cause macrocytic anemia. This genetic disorder affects the body's ability to transport and utilize vitamin B1, leading to a triad of symptoms including megaloblastic anemia, diabetes mellitus, and sensorineural deafness.

While severe dietary thiamine (vitamin B1) deficiency can contribute to overall anemia, a specific and rare genetic condition called Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) is a direct cause of a distinctive type of anemia. This inherited disorder, also known as Rogers syndrome, results in the body's inability to properly transport thiamine into cells.

According to the National Institutes of Health, a rare autosomal recessive genetic disorder called Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome is characterized by a specific triad of symptoms, including megaloblastic anemia. Unlike general dietary deficiency (beriberi), this inherited condition, also known as Rogers syndrome, is the specific answer to what type of anemia is caused by thiamine deficiency.