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Hemochromatosis is a condition caused by the over-absorption of iron from foods that you consume, leading to an excessive concentration of iron in your blood. This can cause serious health problems, since your body doesn’t have a way to get rid of the excess iron. The excess iron also builds up in your:
This buildup of iron causes damage.
Many people with hemochromatosis don’t have noticeable symptoms. When symptoms do exist, they may vary from person-to-person.
Some common symptoms include:
The two forms of hemochromatosis are primary and secondary.
Primary hemochromatosis is an inherited genetic disorder that causes you to absorb too much iron from food.
Most types of primary hemochromatosis are caused by mutations. The HFE gene, or hemochromatosis gene, controls how much iron you absorb from food. There are two common mutations of this gene that cause hemochromatosis. They are C282Y and H63D. A person must inherit a copy of the defective gene from each parent to develop this condition. A person who inherits only one copy of a mutated gene is considered a carrier of the condition, but they may never manifest symptoms.
According to the National Heart, Lung, and Blood Institute (NHLBI), men with the inherited form of this disease typically develop symptoms between the ages of 40 and 60 years old. Women typically develop them after menopause.
The two special subtypes of primary hemochromatosis are juvenile and neonatal.
Secondary hemochromatosis occurs when a buildup of iron is brought on by other medical conditions, such as:
The following people are at increased risk for developing primary hemochromatosis:
Not all people who inherit the gene mutation for hemochromatosis develop the disease. Many people are carriers, which means they have the gene but no symptoms. People at the highest risk of developing symptoms are those with two mutated copies of the HFE gene, one from each parent. However, not all of those people develop symptoms.
Risk factors for secondary hemochromatosis include:
The symptoms of hemochromatosis are similar to those of many other conditions. This can make it difficult to diagnose. Several tests may be necessary to confirm a diagnosis of hemochromatosis.
A blood test can be used check your iron levels. This is assessed using tests for serum iron levels and serum ferritin levels. An additional blood test called a serum transferrin saturation test may be used to measure the amount of iron bound to the protein transferrin, which carries iron in your blood. A test result of 45 percent or more is considered high.
If your doctor thinks you may have hemochromatosis, DNA testing may be recommended. You’ll be checked for mutations in your HFE and hemojuvelin genes.
Your doctor may also do a liver biopsy. This removes a piece of tissue from your liver for pathology lab testing. Your doctor will look for the presence of iron or liver damage. The liver is the main storage site for iron. It’s usually one of the first organs damaged by iron buildup.
The treatment of choice for hemochromatosis is phlebotomy. Phlebotomy is the removal of blood from your body. You may need phlebotomy on a regular basis to remove excess iron. When you first begin the treatments, you’ll have them up to twice a week. After the initial treatments, you may come back four to six times per year.
Most people with hemochromatosis find that phlebotomy is an effective way to relieve their symptoms. In general, it causes little pain and has few side effects. However, some people are uncomfortable with the procedure. Reasons people refuse phlebotomy include:
Phlebotomy is the simplest and cheapest form of therapy for hemochromatosis. If you have problems with the process, talk to your doctor about what you can do to make it easier. Simple things like drinking a lot of fluids the day before each procedure may make you more comfortable.
If phlebotomy is an unacceptable option, for any reason, there are other treatments. However, the medication that’s used to treat hemochromatosis is more expensive. It can also have side effects of its own. These include pain at the injection site and flu-like symptoms.
For people who refuse phlebotomy, a chelating drug may be used. This type of drug can be injected by your doctor or taken by pill. It helps your body expel excess iron in your urine and stool. This treatment is also used for people with heart complications and other contraindications for phlebotomy.
Most complications arise in the organs storing excess iron. This damage occurs over time. It tends to affect your:
The following are examples of what kind of damage can occur:
Your risk of complications can be reduced if treatment is started as soon as you develop hemochromatosis symptoms. If you have hemochromatosis, you should avoid:
Written by: April Kahn
Medically reviewed on: Jan 29, 2016: Steve Kim, MD
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