What is HFE hereditary haemochromatosis

HFE hereditary haemochromatosis is a genetic disorder that causes the body to absorb too much iron from the diet, leading to the accumulation of excess iron in vital organs. Left untreated, HFE hereditary haemochromatosis can damage the liver, heart, and pancreas, but it is highly treatable if identified early through regular therapeutic phlebotomy (blood removal).

What is the underlying cause of HFE hereditary haemochromatosis?

HFE hereditary haemochromatosis is caused by mutations in the HFE gene, which regulates the hormone hepcidin. Hepcidin normally acts as a "gatekeeper" to control iron absorption in the intestines. When the HFE gene is mutated, the body fails to sense iron levels correctly, leading to excessive absorption. Over years, this iron builds up in organs, particularly the liver, potentially causing cirrhosis, diabetes, and heart rhythm irregularities.

Who is typically affected by HFE hereditary haemochromatosis?

HFE hereditary haemochromatosis is one of the most common genetic conditions in populations of Northern European descent, with a prevalence of approximately 1 in 200 to 1 in 300 individuals. While the genetic predisposition is present from birth, symptoms typically appear in mid-adulthood (ages 40–60 for men, often later for women due to iron loss during menstruation). Men are generally more severely affected than women due to these physiological iron losses.

Key facts about HFE hereditary haemochromatosis

• Genetics: It follows an autosomal recessive inheritance pattern, meaning a person must inherit two copies of the mutated gene to be at high risk.


• Prevalence: Roughly 1 in 10 people of European ancestry are carriers of a single HFE mutation.


• Clinical Differentiation: Unlike secondary iron overload (caused by blood transfusions or chronic liver disease), HFE hereditary haemochromatosis is a primary genetic defect in iron regulation.


• Community Impact: At DiseaseMaps.org, 828 people with HFE hereditary haemochromatosis have joined the community to share their experiences and support one another.

Next steps

• Consult a gastroenterologist or hematologist to discuss iron studies (serum ferritin and transferrin saturation).


• Undergo genetic testing if you have a family history of the condition.


• Join our community at DiseaseMaps.org to connect with 828 others living with HFE hereditary haemochromatosis.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.

References

• Orphanet (ORPHA:397): Hereditary haemochromatosis.


• NIH Genetic and Rare Diseases Information Center (GARD): HFE-related hemochromatosis.


• OMIM (Online Mendelian Inheritance in Man): Hemochromatosis, Type 1.


• The Iron Disorders Institute: Patient resources and educational materials.