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Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia

McGrath, T
; 
Cotter, M
Authors
McGrath, T
 Cotter, M
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Date
2018-01
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Keywords
IRON
ANAEMIA
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INFANTS
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Irish Medical Journal
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https://hdl.handle.net/10147/622791
Abstract
We describe the case of a 17-month-old boy with a hypochromic microcytic anaemia, refractory to oral iron treatment. After exclusion of dietary and gastrointestinal causes of iron deficiency, a genetic cause for iron deficiency was confirmed by finding two mutations in the TMPRSS6 gene, consistent with a diagnosis of iron-refractory iron deficiency anaemia (IRIDA).
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en
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