What is Hemochromatosis?

Hemochromatosis causes a build-up of iron. This can cause serious health problems, since your body does not have a way to get rid of the excess iron.

According to the Mayo Clinic, on an average, people absorb around 10 percent of the iron contained in food. This amount is safely stored in the organs (primarily the liver) for later use. However, people with hemochromatosis may absorb as much as 30 percent. However, this is a larger amount than the body needs. Therefore, the excess builds up in the liver, heart, pancreas and the joints and causes damage.

Types of Hemochromatosis

There are two forms of hemochromatosis: primary and secondary.

Primary Hemochromatosis

Primary hemochromatosis is an inherited genetic disorder that causes you to absorb too much iron from food.

It is caused by a mutation in the HFE gene. The HFE gene has two common mutations which cause hemochromatosis: C282Y and H63D. A person must inherit a copy of the defective gene from each parent in order to develop this condition. A person who inherits only one copy of a mutated gene is considered a “carrier” of the condition, but may never manifest symptoms.

According to the National Heart, Lung, and Blood Institute, people with the inherited form of this disease typically develop it between the ages of 40 and 60 years old (NHLBI, 2011).

There are two special sub-types of primary hemochromatosis: juvenile and neonatal.

  • Juvenile hemochromatosis causes symptoms similar to those of primary hemochromatosis, but affects people at a much younger age. This form typically affects individuals between the ages of 15 and 30. Additionally, this form is caused by a mutation in the hemojuvelin gene, not the HFE gene.
  • Neonatal hemochromatosis causes severe build-up of iron in an infant’s liver, sometimes resulting in death.

Secondary Hemochromatosis

Secondary hemochromatosis is when a build-up of iron is brought on by other medical conditions, such as:

  • anemia (when the body does not make enough red blood cells)
  • chronic liver diseases, often a result of hepatitis C infection or alcoholism
  • frequent blood transfusions
  • kidney dialysis

Risk Factors for Hemochromatosis

Primary Hemochromatosis

Risk factors for developing primary hemochromatosis include:

  • having a family history of hemochromatosis: people who have a close relative (parent, sibling, or grandparent) with the disorder are at higher risk for inheriting the gene mutation
  • being of European descent
  • being menopausal: menstrual bleeding lowers the amount of iron in the blood. This can delay the onset of symptoms in people at risk of the disease.
  • being male: while both men and women may inherit the disorder, according to the Centers for Disease Control and Prevention, men are more likely to experience the symptoms and effects of the disease (CDC, 2011)

Not all people who inherit the gene mutation for hemochromatosis develop the disease. Many people are carriers—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 even all of those people will develop symptoms.

Secondary Hemochromatosis

Risk factors for secondary hemochromatosis include:

  • alcoholism
  • a family history of diabetes, heart disease, and live disease
  • taking dietary supplements with iron and vitamin C, which can increase the amount of iron that is absorbed by the body

What Causes Hemochromatosis?

Most types of primary hemochromatosis are caused by HFE gene mutations. The HFE gene controls how much iron you absorb from food.

If you have primary hemochromatosis, you probably inherited the mutated gene from both of your parents. People who only get the gene from one parent are less likely to have symptoms. They do not have symptoms, but they may still have increased absorption of iron.

Juvenile hemochromatosis is caused by a defect in the hemojuvelin gene. This is another gene that regulates iron metabolism.

What are the Symptoms of Hemochromatosis?

Many people with hemochromatosis do not have noticeable symptoms. When symptoms do exist, they may vary from person to person.

Some common symptoms include:

  • fatigue
  • low sex drive
  • impotence
  • upper right abdominal pain
  • joint pain

Diagnosing Hemochromatosis

The symptoms of hemochromatosis are similar to those of other conditions. This can make it difficult to diagnose. Several tests may be necessary to confirm a diagnosis of hemochromatosis.

Blood Testing

A blood test can be used check your iron levels. This test is called the serum ferritin test. An additional blood test called a serum transferrin saturation test is given to measure the amount iron bound to the protein transferrin. Transferrin carries iron through your blood. A result of 45 percent or more is considered high.

DNA Testing

If your doctor thinks you may have hemochromatosis, DNA testing may be recommended. You will be checked for mutations in the HFE and hemojuvelin genes.

Liver Biopsy

Your doctor may also do a liver biopsy. This removes a piece of tissue from your liver for testing. Your doctor will look for the presence of iron or liver damage. The liver is the main storage site for iron. It is usually one of the first organs damaged by iron buildup.

Treatment Options for Hemochromatosis

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 will have them up to twice a week. After the initial treatments, you may come back four to six times per year.

What if I Don’t Want Phlebotomy?

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:

  • fatigue after treatment
  • fear of needles
  • finding the process painful
  • boredom during repeated treatments
  • worries that too much bleeding could cause anemia
  • discomfort with having their blood disposed of or used for transfusions

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 is 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 a doctor or taken by pill and helps the body expel excess iron in the urine and stool. This treatment is also used for people with heart complications and other contraindications for phlebotomy.

Complications from Hemochromatosis

Most complications arise in the organs storing the excess iron. This damage occurs over time. It tends to affect the liver, pancreas, heart, and skin. For example:

  • Liver damage can cause cirrhosis, permanent scarring of the liver.
  • Pancreatic damage can cause changes in insulin levels, leading to diabetes.
  • Circulation problems may lead to heart failure.
  • Iron buildup in the heart can lead to irregular heart rhythm.
  • Excess iron can cause the skin to turn bronze or gray.

The risk of complications can be reduced if treatment is started as soon as you develop hemochromatosis symptoms. If you have hemochromatosis, you should avoid:

  • iron supplements
  • vitamin C supplements, which increase iron absorption
  • alcohol