[HFE hemochromatosis: pathogenic and diagnostic approach]

Area of Science:

• Genetics
• Hepatology
• Internal Medicine

Background:

• HFE hemochromatosis is the most common genetic iron overload disorder.
• It is primarily caused by the C282Y mutation in the HFE gene.
• Iron overload stems from increased intestinal absorption and macrophage recycling, linked to impaired hepcidin production.

Purpose of the Study:

• To review the pathophysiology and diagnostic advancements in HFE hemochromatosis.
• To highlight the role of HFE gene mutations in iron overload.
• To discuss the diagnostic approach and differential diagnoses.

Main Methods:

• Review of literature on HFE hemochromatosis.
• Discussion of diagnostic markers including plasma transferrin saturation and HFE gene mutation analysis.
• Emphasis on hepatic MRI for quantifying iron overload.

Main Results:

• The C282Y mutation in the HFE gene is the primary cause of HFE hemochromatosis.
• Hepatic failure to produce hepcidin contributes to iron excess.
• Plasma transferrin saturation and HFE testing are key diagnostic tools, with hepatic MRI for iron quantification.

Conclusions:

• HFE gene discovery enables non-invasive diagnosis of HFE hemochromatosis.
• Hepatic MRI is crucial for assessing iron burden.
• Understanding HFE hemochromatosis aids in identifying other genetic iron overload syndromes.