1. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
- Author
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Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, and Küçükemre-Aydın B
- Subjects
- Anemia, Megaloblastic metabolism, Child, Preschool, DNA Mutational Analysis, Diabetes Mellitus metabolism, Hearing Loss, Sensorineural metabolism, Humans, Male, Membrane Transport Proteins metabolism, Thiamine Deficiency genetics, Thiamine Deficiency metabolism, Turkey, Anemia, Megaloblastic genetics, DNA genetics, Diabetes Mellitus genetics, Hearing Loss, Sensorineural genetics, Membrane Transport Proteins genetics, Mutation, Thiamine Deficiency congenital
- Abstract
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.
- Published
- 2019
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