Abstract
Thiamine-responsive 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 5-month-old 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.
MeSH terms
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Anemia, Megaloblastic / complications
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Anemia, Megaloblastic / diagnosis
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Anemia, Megaloblastic / pathology
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Anemia, Megaloblastic / therapy
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Blood Component Transfusion
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Bone Marrow / pathology
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Diabetes Mellitus / diagnosis
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Diabetes Mellitus / pathology
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Diabetes Mellitus / therapy
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Hearing Loss, Sensorineural / complications
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Hearing Loss, Sensorineural / diagnosis
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Hearing Loss, Sensorineural / pathology
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Hearing Loss, Sensorineural / therapy
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Humans
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Infant
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Ketoglutarate Dehydrogenase Complex / deficiency
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Male
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Thiamine / therapeutic use
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Thiamine Deficiency / congenital
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Thrombocytopenia / complications*
Substances
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Ketoglutarate Dehydrogenase Complex
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Thiamine
Supplementary concepts
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Thiamine responsive megaloblastic anemia syndrome