Microcytic anaemia with liver iron overload (Q86829)
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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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1532897638 |
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| English | 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. |
