Key Takeaways

Hereditary hemochromatosis is an inborn disorder of iron metabolism, mainly associated with mutations of the HFE gene. It is particularly common in Caucasian populations.

Hereditary hemochromatosis is characterized by an inappropriate high iron absorption from enterocytes and by an excessive iron release from macrophages. It is due to a defective regulation of the synthesis of hepcidin, the key regulator of iron homeostasis.

Diagnosis is often delayed in women because menstrual blood loss and pregnancies minimize iron overload.

While women are at risk for developing the same complications of iron overload as men, the proportion of C282Y homozygotes with iron overload-related disease is substantially higher for men than for women (28% vs. 1%).

The transferrin saturation increases early on in patients with hereditary hemochromatosis followed by an elevation in serum ferritin.

Patients with hereditary hemochromatosis may develop iron deficiency, leading to normal/low ferritin, and high/normal transferrin saturation.

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