Genetic hemochromatosis

Definition

Genetic hemochromatosis is an inherited disorder causing the body to absorb too much iron from the diet. Excess iron is stored in various organs, particularly the liver, heart, and pancreas, leading to potential organ damage.

5 Must Know Facts For Your Next Test

1. Genetic hemochromatosis is most commonly caused by mutations in the HFE gene.
2. Symptoms may include fatigue, joint pain, abdominal pain, and skin discoloration.
3. If left untreated, it can lead to severe complications such as liver cirrhosis, diabetes, and heart disease.
4. Dietary management includes reducing iron intake and avoiding vitamin C supplements which increase iron absorption.
5. Regular phlebotomy (blood removal) is the primary treatment to reduce iron levels in the body.

Review Questions

• What gene mutation is most commonly associated with genetic hemochromatosis?
• Name three potential complications of untreated genetic hemochromatosis.
• What dietary recommendations are typically made for patients with genetic hemochromatosis?

Related terms

Phlebotomy: A procedure that involves drawing blood from a patient to decrease iron levels in conditions like hemochromatosis.

HFE Gene: A gene that regulates iron absorption; mutations in this gene are a common cause of genetic hemochromatosis.

Cirrhosis: Chronic liver damage from a variety of causes leading to scarring and liver failure; can be a complication of untreated hemochromatosis.