Hereditary Hemochromatosis

Causes

Hereditary hemochromatosis is a genetic disorder characterized by excessive iron (Fe) accumulation that results in tissue damage. There are 4 types of hereditary hemochromatosis, which all involve mutations that impair the ability of the body to inhibit iron absorption when iron stores are excessive.

Symptoms and Signs

The effects of iron overload are similar in all types and include liver disease (leading to cirrhosis), skin pigmentation, diabetes, arthropathy, erectile dysfunction, and sometimes heart failure.

Diagnosis

• Serum ferritin, fasting serum iron, and transferrin saturation
• Genetic testing
• Sometimes liver biopsy

Treatment

• Phlebotomy