HFE Hereditary Hemochromatosis[edit | edit source]

Introduction[edit | edit source]

Hereditary Hemochromatosis (HH) is a genetic disorder causing the body to absorb excessive amounts of iron from the diet.

Representation of iron overload in organs.

HH is primarily caused by mutations in the HFE gene, most commonly the C282Y and H63D mutations.

The disorder disrupts normal iron regulation, leading to iron overload in various organs, particularly the liver, heart, and pancreas.

Symptoms of HH can vary but commonly include:

Diagnosis is based on blood tests, genetic testing, and sometimes liver biopsy.

Treatment primarily involves regular blood removal (phlebotomy) to reduce iron levels. Chelation therapy is another option in some cases.

HH is most common among individuals of Northern European descent.

Untreated HH can lead to severe complications like liver cancer, heart diseases, and diabetes.

Family screening and genetic counseling are recommended for individuals with a known family history of HH.

HFE hereditary haemochromatosis Resources
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