16-6-2　ⓔ文献

  1. Olynyk JK, Cullen DJ, et al: A population–based study of the clinical expression of the hemochromatosis gene. N Engl J Med, 1999; 341: 718–724.

  2. Merryweather–Clarke AT, Pointon JJ, et al: Global prevalence of putative haemochromatosis mutations. J Med Genet, 1997; 34: 275–278.

  3. Feder JN, Penny DM, et al: The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA, 1998; 95: 1472–1477.

  4. Papanikolaou G, Samuels ME, et al: Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis. Nat Genet, 2004; 36: 77–82.

  5. Delatycki MB, Allen KJ, et al: A homozygous HAMP mutation in a multiply consanguineous family with pseudo–dominant juvenile hemochromatosis. Clin Genet, 2004; 65: 378–383.

  6. Camaschella C, Roetto A, et al: The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet, 2000; 25: 14–15.

  7. De Domenico I, Ward DM, et al: The molecular basis of ferroportin–linked hemochromatosis. Proc Natl Acad Sci U S A, 2005; 102: 8955–8960.

  8. Drakesmith H, Schimanski LM, et al: Resistance to hepcidin is conferred by hemochromatosis–associated mutations of ferroportin. Blood, 2005; 106: 1092–1097.

  9. Brunt EM: Pathology of hepatic iron overload. Semin Liver Dis, 2005; 25: 392–401.

  10. Adams PC, Barton JC: How I treat hemochromatosis. Blood, 2010; 116: 317–325.

  11. Nielsen P, Fischer R, et al: Effective treatment of hereditary haemochromatosis with desferrioxamine in selected cases. Br J Haematol, 2003; 123: 952–953.

  12. Cappellini MD, Cohen A, et al: A phase 3 study of deferasirox (ICL670), a once–daily oral iron chelator, in patients with beta–thalassemia. Blood, 2006; 107: 3455–3462.

  13. Kew MC: Hepatic iron overload and hepatocellular carcinoma. Liver Cancer, 2014; 3: 31–40.