HFE hereditary haemochromatosis

HFE Hereditary Hemochromatosis

Introduction

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

Etiology

Representation of iron overload in organs.

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

Pathophysiology

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

Clinical Manifestations

Symptoms of HH can vary but commonly include:

• Joint pain
• Abdominal pain
• Fatigue
• Diabetes
• Liver cirrhosis

Diagnosis

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

Treatment

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

Epidemiology

HH is most common among individuals of Northern European descent.

Complications

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

Prevention and Screening

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

See Also

• Iron metabolism
• Genetic disorders
• Liver disease

External Links

• Genetics Home Reference - Hereditary Hemochromatosis
• Mayo Clinic - Hemochromatosis

HFE hereditary haemochromatosis Resources
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