Genetic Hemochromatosis

Definition

Genetic disorder characterized by excessive iron absorption due to mutations in the HFE gene. Progressive accumulation of iron damages the liver, heart, pancreas, and joints.

How it works

Genetic hemochromatosis, mainly in its classical form linked to HFE, results from mutations preventing hepcidin regulation, the hormone controlling iron absorption. Without this regulation, the body absorbs too much iron from food without an effective elimination mechanism. Excess iron accumulates in tissues, causing cellular oxidation and organ fibrosis. Symptoms include liver cirrhosis, diabetes, cardiac arrhythmia, and arthropathy. Early detection by genotyping and ferritin dosing allows for intervention before permanent damage. Management relies on phlebotomy (therapeutic bloodletting) and iron-restrictive dietary measures.

Role

Regulates intestinal iron absorption, critical for maintaining homeostatic balance.

Examples

• Red meat (hemin-rich sources)
• Liver
• Crustaceans
• Cooked legumes
• Dried fruits
• Red wine

Recommendations

Reduce red meat consumption and high-absorbable hemin-rich food sources. Avoid excessive multivitamin supplements containing iron and excessive vitamin C. Perform regular therapeutic phlebotomies according to medical recommendations and maintain normal ferritin levels.

Key takeaway

Early genetic detection and strict iron intake management prevent severe complications of genetic hemochromatosis.

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