HFEgeenin

The HFE gene is a human gene that provides instructions for making a protein called hemochromatosis protein. This protein is involved in the regulation of iron absorption in the body. Iron is an essential mineral that is vital for many bodily functions, including oxygen transport by red blood cells.

Mutations in the HFE gene are the most common cause of hereditary hemochromatosis, a genetic disorder characterized by excessive iron accumulation in organs such as the liver, heart, and pancreas. This overload of iron can lead to serious health problems, including liver damage, heart disease, diabetes, and arthritis.

There are several common mutations in the HFE gene, with the C282Y and H63D mutations being the most prevalent. The severity of hereditary hemochromatosis can vary depending on the specific mutations inherited and their combination. Individuals inheriting two mutated copies of the gene are at a higher risk of developing iron overload.

Diagnosis of HFE-related hemochromatosis typically involves blood tests to measure iron levels and genetic testing to identify mutations in the HFE gene. Treatment usually involves phlebotomy, which is the regular removal of blood to reduce excess iron stores. Early diagnosis and treatment are crucial to prevent or minimize organ damage.