The Turkish Journal of Pediatrics
2019 , Vol 61 , Num 2
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome
1 Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey2 Departments of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey
3 Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey
4 Departments of Pediatric Metabolic, Diseases, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey DOI : 10.24953/turkjped.2019.02.015 Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260.
Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus. Here we report, a 5-year-old boy who presented with transfusion dependent anemia and diabetes mellitus and was diagnosed with TRMA. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.
Keywords : thiamine-responsive megaloblastic anemia, thrombocytopenia, diabetes mellitus, SLC19A2 mutation