Microcytic anaemia with liver iron overload (Q86829): Difference between revisions

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Revision as of 12:23, 15 August 2026

Congenital hypochromic microcytic anaemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. This syndrome is due to mutations in DMT1 which codes for a transporter mediating the uptake of iron from the intestinal lumen in cytosol of duodenal enterocytes. anaemia poorly responds to oral iron treatment.
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ID_1532897638
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    Microcytic anaemia with liver iron overload
    Congenital hypochromic microcytic anaemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. This syndrome is due to mutations in DMT1 which codes for a transporter mediating the uptake of iron from the intestinal lumen in cytosol of duodenal enterocytes. anaemia poorly responds to oral iron treatment.

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      CID11:ID_1532897638
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