A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome
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 (TR...
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| Veröffentlicht in: | Turkish journal of pediatrics 2019, Vol.61 (2), p.257 |
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| container_title | Turkish journal of pediatrics |
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| creator | Odaman-Al, Işık Gezdirici, Alper Yıldız, Melek Ersoy, Gizem Aydoğan, Gönül Şalcıoğlu, Zafer Tahtakesen, Tuba Nur Önal, Hasan Küçükemre-Aydın, Banu |
| description | 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. |
| format | Article |
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| ispartof | Turkish journal of pediatrics, 2019, Vol.61 (2), p.257 |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| title | A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome |
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