HEPATOLOGY-20 (1) (1)

hemochromatosis - Dubai Hepatology Clinic

Hemochromatosis is a hereditary disorder characterized by excessive absorption and accumulation of iron in various organs and tissues of the body. It is one of the most common genetic disorders in people of Northern European descent.

In individuals with hemochromatosis, the body absorbs more iron from the diet than it needs, leading to a gradual buildup of iron over time. This excess iron is deposited in organs such as the liver, heart, pancreas, and joints, which can lead to organ damage and dysfunction if left untreated.

The primary form of hemochromatosis is caused by a genetic mutation that affects the regulation of iron absorption in the small intestine. The most common mutation associated with hemochromatosis is known as the C282Y mutation in the HFE gene. However, other gene mutations can also contribute to the development of the disorder.

Hemochromatosis is often asymptomatic in the early stages, and symptoms may not appear until significant iron overload has occurred.

Common signs and symptoms of hemochromatosis include:

Diagnosis of hemochromatosis:

The diagnosis of hemochromatosis involves blood tests to measure iron levels and assess the saturation of transferrin (a protein that carries iron in the blood). Genetic testing may also be performed to identify specific gene mutations associated with the disorder. Imaging tests, such as liver biopsy or magnetic resonance imaging (MRI), may be used to assess the extent of organ damage caused by iron overload.

Primary treatment for hemochromatosis

The primary treatment for hemochromatosis is therapeutic phlebotomy, which involves regularly removing blood from the body to reduce iron levels. This process is similar to blood donation and is usually performed every 1 to 2 weeks until iron levels normalize. Once iron levels are controlled, maintenance phlebotomy is done less frequently to prevent iron overload from recurring.

In addition to phlebotomy, other treatments may be used to manage complications associated with hemochromatosis, such as iron chelation therapy (medications that help remove excess iron) or treatment for organ damage.

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