Hemokromatose

Hemokromatose, also known as hemochromatosis, is an iron overload disorder in which excessive absorption of dietary iron leads to progressive iron deposition in organs such as the liver, heart, and pancreas. It can be hereditary (primary) or acquired (secondary).

Primary hereditary hemochromatosis is most often caused by mutations in the HFE gene, with C282Y homozygosity being the classic risk variant transmitted in an autosomal recessive pattern. Other gene variants, including H63D, SLC40A1 and TFR2, can contribute to disease in some individuals. Secondary iron overload results from repeated blood transfusions, certain anemias, chronic liver disease, or excessive alcohol use.

Over time, iron deposition can cause liver fibrosis and cirrhosis, hepatocellular carcinoma, diabetes due to pancreatic damage, cardiomyopathy, arthritis, and skin hyperpigmentation. Many people with hereditary hemochromatosis remain asymptomatic for years.

Diagnosis typically involves measuring transferrin saturation and ferritin levels, followed by genetic testing for HFE mutations to confirm hereditary disease. In some cases, liver imaging or biopsy is used to assess iron content and organ damage.

Treatment focuses on removing excess iron, most commonly with regular phlebotomy (blood removal). Chelation therapy may be used when phlebotomy is not suitable. Early and ongoing treatment can prevent severe organ damage and normalize life expectancy; family members may be offered genetic screening to identify others at risk.