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Hemochromatosis Information

Hemochromatosis (HHC), the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. People with Hemochromatosis absorb extra amounts of iron from the daily diet. The human body cannot rid itself of extra iron. Over time, these excesses build up in major organs such as the heart, liver, pancreas, joints and pituitary. If the extra iron is not removed, these organs can become diseased. Untreated hemochromatosis can be fatal. Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent. Adults preserve a constant level of body iron by efficient conservation, maintaining rigorous control over absorption to balance losses. An adult man loses approximately 1 mg of iron daily, mostly in desquamated epithelium and secretions from the gut and skin. Hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Hemochromatosis type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) are adult-onset disorders. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.

The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. There are two forms of hemochromatosis: primary and secondary. Primary hemochromatosis is caused by a problem with your genes or by receiving a large number of blood transfusions which boost your iron levels. Secondary or acquired hemochromatosis can be caused by diseases such as thalassemia or sideroblastic anemia. Iron is an essential nutrient found in many foods. One of its jobs is to carry oxygen to all parts of the body. Normally, humans absorb about 8-10% of the iron in foods that they eat. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. You have a higher risk of hemochromatosis if someone else in your family has or had the condition. Hemochromatosis results in liver cirrhosis, heart failure, diabetes mellitus, impotence, and arthritis. If untreated, it may lead to death from cirrhosis, diabetes, malignant hepatoma, or cardiac disease. In rare cases, iron overload begins before birth. These cases are called neonatal hemochromatosis. This type of hemochromatosis progresses rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. This is particularly important since early diagnosis and prompt treatment can prevent all of the long-term complications of the disease.

Causes of Hemochromatosis

The common causes and risk factor's of Hemochromatosis include the following:

  • Hemochromatosis occurs when too much iron builds up in the liver.
  • Diseases such as thalassemia or sideroblastic anemia.
  • A family history of hemochromatosis.
  • It can also result from blood transfusions and over consumption of dietary iron, especially among people with a genetic predisposition to accumulate iron.
  • A person who inherits the defective gene from both parents may develop hemochromatosis.

Symptoms of Hemochromatosis

Some sign and symptoms related to Hemochromatosis are as follows:

  • Damage to the adrenal gland.
  • Joint pain.
  • Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.
  • Early menopause.
  • Lack of energy.
  • Weakness.
  • Heart problems.
  • Skin Color Changes
  • Loss of period loss of interest in sex.

Treatment of Hemochromatosis

Here is list of the methods for treating Hemochromatosis:

  • The most effective therapy and treatment of choice for patients with hemochromatosis is therapeutic phlebotomy (removal of either whole blood or red blood cells).
  • Testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics. Diabetes, arthritis, liver failure, and heart failure should be treated.
  • Deferiprone is an oral medicine that binds with the extra iron and then leaves the body in the urine or feces.
  • Surgical procedures are used to treat 2 important complications: end-stage liver disease and severe arthropathy.


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