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Comment
. 2001 Aug;108(4):521-2.
doi: 10.1172/JCI13739.

Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding

R E Fleming  1 , W S Sly
Affiliations
Comment

Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding

R E Fleming et al. J Clin Invest. 2001 Aug.
No abstract available

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Figures

Figure 1
Figure 1
Ferroportin1 in absorption of dietary iron (a) and release of iron stores (b). (a) Dietary nonheme iron at the luminal surface of the villus enterocyte is reduced by ferric reductase and taken up by DMT1. The iron may be retained, or transported across the basolateral surface by ferroportin1 (blue oval), oxidized by hephaestin, and bound to transferrin (Tf) for plasma transport. (b) Transferrin-bound iron (Tf-Fe) is taken up by the RE cell by a complex containing β2-microglobulin (β2M), the transferrin receptor (TfR), and the HFE protein (teal oval), which is defective in the classic, autosomal recessive form of hemochromatosis. Heme iron taken up by phagocytosis of senescent erythrocytes (RBC) is released by heme oxygenase (H.O.). The iron may be stored as ferritin, or exported via ferroportin1, after which it is oxidized by ceruloplasmin (Cp), and bound to transferrin for plasma transport. Hephaestin and ceruloplasmin, both indicated by green circles, are structurally similar and perform analogous functions, but their patterns of expression are distinct. Two recent papers, including one in this issue of the JCI, have implicated ferroportin in an atypical, autosomal dominant form of hemochromatosis (6, 7).
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References

    1. Andrews NC. Disorders of iron metabolism. N Engl J Med. 1999;341:1986–1995. - PubMed
    1. Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology. 1999;116:193–207. - PubMed
    1. Carella M, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet. 1997;60:828–832. - PMC - PubMed
    1. Piperno A. Classification and diagnosis of iron overload. Haematologica. 1998;83:447–455. - PubMed
    1. Pietrangelo A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999;341:725–732. - PubMed

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