Microcytic anaemia with liver iron overload (Q86829): Difference between revisions
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Anemia microcítica hipocrômica congênita com sobrecarga progressiva de ferro hepático paradoxalmente associada com níveis normais a moderadamente aumentados da ferritina foram descritos em três pacientes não aparentados. Esta sindrome é devida a mutações no DMT1 o qual codifica um transportador mediador da captação do ferro do lumen intestinal nos enterócitos do citosol duodenal. Anemia pouco responsiva ao tratamento com ferro oral. | |||
| description / en | description / en | ||
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. | |||
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| 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. |
