Abstract
Hemochromatosis is currently characterized by the
iron overload caused by
hepcidin deficiency. Large advances in the
knowledge on the
hemochromatosis pathophysiology have occurred due to a better
understanding of the
protein of the
iron metabolism, the genetic basis of
hemochromatosis and of other
iron overload diseases or conditions which can
lead to this
phenotype. In the present
review, the main aims are to show updates on
hemochromatosis and to
report a practical set of
therapeutic recommendations for the
human factors engineering protein (HFE)
hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous
genotype, elaborated by the
Haemochromatosis International Taskforce.