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Title of Journal: Int J Hematol

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Abbravation: International Journal of Hematology

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Springer Japan

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10.1007/s00405-014-3486-4

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1865-3774

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Thiamineresponsive megaloblastic anemia syndrome

Authors: Ali Bay Mehmet Keskin Samil Hizli Hatice Uygun Alper Dai Fatma Gumruk
Publish Date: 2010/09/11
Volume: 92, Issue: 3, Pages: 524-526
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Abstract

Thiamineresponsive megaloblastic anemia TRMA syndrome usually associated with diabetes mellitus anemia and deafness due to mutations in SLC19A2 encoding a thiamine transporter protein The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families In this case we report a 5monthold boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent

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