Işık Odaman AL, Alper GEZDİRİCİ, Melek YILDIZ, Gizem ERSOY, Gönül AYDOĞAN, Zafer SALCIOĞLU, Tuba Nur TAHTAKESEN, Hasan ÖNAL, Banu Küçükemre AYDIN

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

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.

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1. Rogers E, Porter SF, Sidbury JR. Thiamine responsive megaloblastic anemia. J Pediatr 1969; 74: 499-504.

2. Yesilkaya E, Bideci A, Temizkan M, et al. A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. J Trop Pediatr 2009; 55: 265-267.

3. Ozdemir MA, Akcakus M, Kurtoglu S, Gunes T, Torun YA. TRMA syndrome (thiamine-responsive megaloblastic anemia): A case report and review of the literature. Pediatr Diabetes 2002; 3: 205-209.

4. Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ. The gene mutated in thiamineresponsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999; 22: 305-308.

5. Labay V, Raz T, Baron D, et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999; 22: 300-304.

6. Tahir S, Leijssen LGJ, Sherif M, Pereira C, Morais A, Hussain K. A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. Int J Pediatr Endocrinol 2015; 2015: 6.

7. Mozzillo E, Melis D, Falco M, et al. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatr Diabetes 2013; 14: 384-387.

8. Akın L, Kurtoğlu S, Kendirci M, Akın MA, Karakük M. Does early treatment prevent deafness in thiamineresponsive megaloblastic anaemia syndrome? J Clin Res Ped Endocrinol 2011; 3: 36-39.

9. Brown G. Defects of thiamine transport and metabolism. J Inherit Metab Dis 2014; 37: 577-585.

10. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21: 577-581. 11. Bazarbachi A, Muakkit S, Ayas M, et al. Thiamineresponsive myelodysplasia. Br J Haematol 1998; 102: 1098-1100. 12. Neufeld EJ, Mandel H, Raz T, et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 1997; 61: 1335-1341. 13. Ricketts CJ, Minton JA, Samuel J, et al. Thiamineresponsive megaloblastic anemia syndrome: long-term follow-up and mutation analysis of seven families. Acta Paediatr 2006; 95: 99-104. 14. Yilmaz Y, Aydın BK, Baş F, et al. A thiamine responsive megaloblastic anemia presented with hypertriglyceridemia and auto-immune diabetes. Exp Clin Endocrinol Diabetes Rep 2015; 2: e8-e10. 15. Onal H, Baris S, Ozdil M, et al. Thiamine-responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness. Turk J Pediatr 2009; 51: 301- 304.