hematology and oncology
Hereditary Hemochromatosis
Key Points
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. The effects of iron overload are similar in all types and include liver disease (leading to cirrhosis), skin pigmentation, diabetes, arthropathy, hypogonadism, and sometimes heart failure. Diagnose by measuring serum ferritin level; if elevated, confirm by demonstrating elevated serum iron, transferrin saturation, and genetic testing. Once diagnosis is made, the degree of liver fibrosis should be assessed by liver biopsy or non-invasive imaging such as MRI with MR elastography to i determine prognosis; consider genetic testing and screening of first-degree relatives. Treat with phlebotomy and moderation of alcohol consumption. 