Hemachromatosis

- Hemachromatosis is a hereditary disorder characterized by excessive absorption and deposition of iron in various organs of the body. - It is most commonly caused by mutations in the HFE gene, resulting in increased iron absorption from the diet.

- Excess iron gets deposited in organs such as the liver, heart, pancreas, and joints, leading to organ dysfunction and damage.

- Symptoms may include fatigue, weakness, joint pain, abdominal pain, and darkening of the skin.

- Diagnosis is made through blood tests that measure serum iron levels, transferrin saturation, and ferritin levels. Genetic testing can confirm the presence of HFE gene mutations.

- Treatment usually involves regular blood removal (phlebotomy) to reduce iron levels and prevent organ damage. Iron chelation therapy may be required in cases where phlebotomy is not appropriate or effective. - Early detection and treatment can help prevent complications such as cirrhosis, diabetes, and heart disease.

- Family screening is important due to the hereditary nature of the disease. Genetic counseling may be beneficial for affected individuals and their family members.

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