Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.

@article{Beaumont2006TwoNH,
  title={Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.},
  author={Carole Beaumont and Jean Delaunay and Gilles Hetet and Bernard Grandchamp and Marianne de Montalembert and Gil Tchernia},
  journal={Blood},
  year={2006},
  volume={107 10},
  pages={4168-70}
}
DMT1 mediates the pH-dependent uptake of Fe(2+) from the diet in duodenal enterocytes and in most other cells. It transfers iron from the endosomes to the cytosol following the uptake of the transferrin-transferrin receptor complex. DMT1 mutations are responsible for severe hypochromic microcytic anemia in rodents and in 2 human patients described recently. We report a compound heterozygote for 2 new DMT1 mutations, associated with microcytic anemia from birth and progressive liver iron… CONTINUE READING

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