Summary

Hereditary haemochromatosis (HH) is an autosomal recessive disorder of iron metabolism resulting in excessive iron absorption and tissue deposition. The most common form is caused by C282Y homozygosity in the HFE gene. Iron accumulates in the liver, heart, pancreas, joints, and endocrine organs, leading to cirrhosis, cardiomyopathy, diabetes, arthropathy, and hypogonadism. Diagnosis is by elevated transferrin saturation and ferritin, confirmed by HFE genotyping. Treatment is venesection (phlebotomy) to remove excess iron. Early diagnosis prevents complications; cirrhosis once established is irreversible.

Key Facts

• Definition: AR disorder of iron metabolism (HFE gene)
• Incidence: 1 in 200-300 (Northern European); low penetrance
• Peak Demographics: Men 40-60; women post-menopause
• Pathognomonic: Transferrin saturation greater than 45% + elevated ferritin + C282Y/C282Y
• Gold Standard Investigation: HFE genotyping
• First-line Treatment: Venesection until ferritin less than 50
• Prognosis: Normal life expectancy if treated before cirrhosis

Clinical Pearls

Diagnostic Pearl: Transferrin saturation is the best screening test. Ferritin can be elevated by inflammation.

Treatment Pearl: Venesect weekly (500ml blood) until ferritin less than 50, then maintain with 3-4 per year.

Screening Pearl: Screen all first-degree relatives with HFE genotyping and iron studies.

Viva Points

"Haemochromatosis is AR iron overload (HFE C282Y). Screen with transferrin saturation; confirm with genotype. Complications: cirrhosis, HCC, diabetes, cardiomyopathy, arthropathy. Treat with venesection to ferritin less than 50. Screen relatives."

Last Reviewed: 2026-01-01 | MedVellum Editorial Team