A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Özet

Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndromecharacterized by the triad of early onset megaloblastic anemia, sensorineuraldeafness and diabetes mellitus. Here we report, a 5-year-old boy whopresented with transfusion dependent anemia and diabetes mellitus and wasdiagnosed with TRMA. Besides reporting a novel mutation of the causativegene SLC19A2, we wanted to emphasize this syndrome in the aspect ofcoexistence of insulin dependent diabetes, transfusion dependent anemia andthrombocytopenia.