Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Abstract Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene. SLC19A2 encodes the highaffinity thiamine transport protein 1 (THTR1), which mediates the active transport of thiamine. The classical triad consists of megaloblastic anemia, sensorineural hearing loss, and non-autoimmune diabetes. Apart from this, ophthalmological, cardiological, and neurological findings have also been described. We present a case of thiamine-responsive megaloblastic anemia (TRMA) syndrome diagnosed in an adult with a novel mutation in the SLC19A2 gene. This 38-year-old female patient, a third child from a consanguineous marriage, presented with the classic TRMA triad: sensorineural deafness, megaloblastic anemia, and autoimmune diabetes. Starting thiamine treatment is essential in reducing the development/progression of some complications; it is crucial to increase awareness of the disease and make an early diagnosis. Cite this article as: Helvaci BC, Saat H, Hepsen S, Helvaci Ö, Cakal E. Novel homozygous variant in the SLC19A2 gene causing thiamine responsive megaloblastic anemia syndrome: A disease to be considered in diabetes clinics. Endocrinol Res Pract. 2024;28(4):236-239.