HFE hereditary haemochromatosis
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.
Etiology[edit | edit source]
HH is primarily caused by mutations in the HFE gene, most commonly the C282Y and H63D mutations.
Pathophysiology[edit | edit source]
The disorder disrupts normal iron regulation, leading to iron overload in various organs, particularly the liver, heart, and pancreas.
Clinical Manifestations[edit | edit source]
Symptoms of HH can vary but commonly include:
- Joint pain
- Abdominal pain
- Fatigue
- Diabetes
- Liver cirrhosis
Diagnosis[edit | edit source]
Diagnosis is based on blood tests, genetic testing, and sometimes liver biopsy.
Treatment[edit | edit source]
Treatment primarily involves regular blood removal (phlebotomy) to reduce iron levels. Chelation therapy is another option in some cases.
Epidemiology[edit | edit source]
HH is most common among individuals of Northern European descent.
Complications[edit | edit source]
Untreated HH can lead to severe complications like liver cancer, heart diseases, and diabetes.
Prevention and Screening[edit | edit source]
Family screening and genetic counseling are recommended for individuals with a known family history of HH.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
| HFE hereditary haemochromatosis Resources | |
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