Hemochromatosis
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Overview
Hemochromatosis is an inherited disorder that causes the body to absorb and store too much iron from the food we eat. Over time, this excess iron builds up in various organs, including the liver, heart, and pancreas, leading to organ damage. If untreated, hemochromatosis can cause serious complications such as liver cirrhosis, diabetes, and heart disease.
There are two main types of hemochromatosis:
Primary (Hereditary) Hemochromatosis: Caused by genetic mutations that affect iron absorption. The most common mutation is in the HFE gene.
Secondary Hemochromatosis: Results from other medical conditions or treatments that cause iron overload, such as blood transfusions or certain types of anemia.
What Causes Hemochromatosis?
Hemochromatosis is primarily caused by genetic mutations that lead to excessive iron absorption from the digestive tract. The body has no natural mechanism for excreting excess iron, so it accumulates in organs over time.
Caused by mutations in the HFE gene, usually inherited from both parents. The two most common mutations are C282Y and H63D.
Can occur due to other conditions like chronic anemia, repeated blood transfusions, or liver disease that causes iron overload.
What Are the Symptoms of Hemochromatosis?
Hemochromatosis develops slowly and often has no symptoms in its early stages. As iron accumulates in the body, symptoms become more noticeable and may include:
- Fatigue or weakness
- Joint pain
- Abdominal pain
- Unexplained weight loss
- Skin darkening or bronze pigmentation
- Heart palpitations or irregular heartbeat
- Diabetes or increased thirst and urination due to pancreatic involvement
- Liver enlargement or cirrhosis in severe cases
Many of these symptoms are non-specific and can overlap with other conditions, so early diagnosis is crucial.
How is Hemochromatosis Diagnosed?
Diagnosis of hemochromatosis typically involves:
- Blood tests: To measure serum ferritin (iron storage) levels and transferrin saturation (percentage of iron-binding proteins that are saturated with iron).
- Genetic testing: To identify mutations in the HFE gene that cause primary hemochromatosis.
- Liver function tests: To assess liver damage or dysfunction caused by iron overload.
MRI or biopsy: To measure iron levels in organs, particularly the liver, and assess the extent of organ damage.
How is Hemochromatosis Treated?
Treatment focuses on reducing iron levels in the body and preventing organ damage:
- Phlebotomy (regular blood removal): The primary treatment for hemochromatosis. By removing blood, the body loses iron, helping to bring iron levels down to normal levels. This treatment is often done once a week initially, then spaced out as iron levels stabilize.
- Iron chelation therapy: In cases where phlebotomy is not possible (e.g., in individuals with anemia), iron chelation medications may be prescribed to bind and remove excess iron from the body.
- Dietary changes: Patients are advised to avoid iron-rich foods and vitamin C supplements (which can increase iron absorption) and avoid alcohol to protect liver function.
- Management of complications: If organ damage has occurred (such as liver disease or diabetes), additional treatments may be needed to manage these conditions.
Who is at Risk for Hemochromatosis?
Primary hemochromatosis is most common in people of Northern European descent, especially those of Celtic heritage. People with a family history of hemochromatosis are at higher risk, as the condition is inherited in an autosomal recessive pattern.
If both parents carry the defective gene, there is a 25% chance that their child will inherit the condition.
What is the Outlook for People with Hemochromatosis?
If detected early and treated effectively, individuals with hemochromatosis can lead a normal, healthy life. However, if left untreated, iron overload can lead to severe complications such as liver cirrhosis, liver cancer, heart disease, and diabetes. Regular monitoring and adherence to treatment plans are critical to preventing irreversible organ damage.
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we connect patients with specialized hepatologists, genetic counselors, and liver transplant centers. We provide expert guidance in managing hemochromatosis, including monitoring iron levels, liver function, and treating complications. If necessary, we also support patients through the process of liver transplantation for those with severe liver damage.
Why Choose Liver Transplantation Portal?
We are committed to offering comprehensive care and expert support for individuals with rare liver diseases like hemochromatosis. With access to leading specialists and treatment options, Liver Transplantation Portal ensures that you receive the best care for your condition.
Contact us today to learn more about hemochromatosis and how we can assist in managing this condition and preventing its complications.