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.