Hemochromatosis

What Is Hemochromatosis?

Hemochromatosis (also known as iron overload) is a medical condition in which the intestines absorb more iron than they should over many years. This results in large amounts of iron being stored in organs within the body, with eventual damage to these organs. Organs that are usually affected by the disease include the:

 

Hemochromatosis can happen because of certain medical conditions, such as thalassemia or sideroblastic anemia. But the most common form in the United States is an inherited condition called hereditary hemochromatosis (also known as genetic hemochromatosis). Caucasians of Northern European descent are at highest risk for developing hereditary hemochromatosis. An estimated one million people in the United States have this condition.

 

Without treatment, hemochromatosis can cause organs to fail.

 

Understanding Iron

Iron is an essential nutrient found in many foods. Iron-rich food includes such things as red meat and iron-fortified bread and cereal. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.

 

Healthy people usually absorb about 10 percent of the iron contained in the food they eat to meet the body's needs. People with hemochromatosis absorb more than the body needs. The body has no natural way to rid itself of the excess iron, so, over time, this excess iron is deposited in the cells of the liver, heart, pancreas, joints, and pituitary gland, leading to diseases such as:

 

Causes of Hemochromatosis and Genetics

There are two types of hemochromatosis:

 

 

The gene that causes hereditary hemochromatosis, called the HFE gene, was identified on chromosome 6 in 1996. A child who inherits two copies of a mutated HFE gene (one from each parent) is highly likely to develop hemochromatosis. However, not all people who have two mutated copies develop signs and symptoms of hemochromatosis.

 

People who inherit only one copy of the mutated HFE gene are hemochromatosis carriers, but usually have no related symptoms, or only have mild symptoms, since one correct copy of the gene appears to adequately regulate iron absorption. "Silent" carriers, without symptoms, can still pass on the defect to their children.

 

If two parents are silent carriers, a child has a 25 percent chance of inheriting two copies of the defective gene, and will most likely develop the disease. An estimated 10 percent of the U.S. population carries this gene. Carriers are most likely to exhibit signs of hemochromatosis if there are triggers such as diabetes or alcoholism.

 

Acquired hemochromatosis is caused by other medical conditions -- in particular, those in which there is a problem making red blood cells or hemoglobin. Medical conditions that can result in hemochromatosis include:

 

 

Symptoms of Hemochromatosis

Early symptoms of hemochromatosis may include:

 

If hemochromatosis is not detected early and treated, iron may accumulate in body tissues and may eventually lead to serious symptoms, including:

 

Diagnosing Hemochromatosis

In order to make a hemochromatosis diagnosis, the healthcare provider will likely ask a number of questions about a person's medical history, perform a physical examination, and order routine blood tests to help rule out other conditions that could be causing the symptoms.

 

Treatment for Hemochromatosis

Treatment for the disease depends on how severe the iron overload is. The first step is to get rid of the extra iron in the body. The process is called phlebotomy, which means removing blood. This process is similar to giving blood. It is simple and safe. A pint of blood will be taken once or twice a week for several months to a year -- sometimes longer.

 

Once iron levels go back to normal, you will give a pint of blood every two to four months for life. Although treatment cannot cure the problems caused by hemochromatosis, it usually helps most of them. Arthritis is the only problem that does not improve after excess iron is removed.

 

 

Prognosis With Hemochromatosis

The earlier hemochromatosis is detected and treated, the better. If treatment begins before any organs are damaged, associated conditions -- such as liver disease, heart disease, arthritis, and diabetes -- can often be prevented.

 

The outlook for people who already have these conditions at diagnosis depends on the degree of organ damage. For example, treatment for hemochromatosis can stop the progression of liver disease in its early stages, which means a normal life expectancy. However, if cirrhosis has developed, the person's risk of developing liver cancer increases, even if iron stores are reduced to normal levels. Appropriate regular follow-up with a specialist is necessary.

 

Living With Hemochromatosis

There is a lot you can do to make your life as healthy as possible while living with hemochromatosis: