Hemochromatosis: Types, Risk Factors, and Causes
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Hemochromatosis

What Is Hemochromatosis?

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: 

  • liver
  • heart
  • pancreas
  • joints

This buildup of iron causes damage.

What Are the Symptoms of Hemochromatosis?

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Many people with hemochromatosis don’t have noticeable symptoms. When symptoms do exist, they may vary from person-to-person.

Some common symptoms include: 

  • fatigue
  • a low sex drive
  • impotence
  • abdominal pain
  • low energy
  • joint pain

What Causes Hemochromatosis?

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The two forms of hemochromatosis are primary and secondary.

Primary Hemochromatosis

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.

  • Juvenile hemochromatosis causes symptoms similar to those of primary hemochromatosis, but it typically affects people 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 a severe buildup of iron in an infant’s liver, sometimes resulting in death.

Secondary Hemochromatosis

Secondary hemochromatosis occurs when a buildup of iron is brought on by other medical conditions, such as:

  • anemia, which occurs when your body doesn’t make enough red blood cells
  • chronic liver disease, which often results from hepatitis C infection or alcoholism
  • frequent blood transfusions
  • kidney dialysis

Risk Factors for Hemochromatosis

Risk Factors

Primary Hemochromatosis

The following people are at increased risk for developing primary hemochromatosis:

  • People who have a close relative with the disorder, such as a parent, sibling, or grandparent, are at higher risk of inheriting the gene mutation.
  • People of European descent are at increased risk.
  • Women who are postmenopausal are at increased risk. Menstrual bleeding lowers the amount of iron in your blood, which can delay the onset of symptoms in people at risk of the disease
  • While both men and women may inherit the disorder, the Centers for Disease Control and Prevention (CDC) reports that men are more likely to be diagnosed with the effects of the disease. 

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.

Secondary Hemochromatosis

Risk factors for secondary hemochromatosis include: 

  • alcoholism
  • a family history of diabetes, heart disease, or liver disease
  • taking dietary supplements with iron or vitamin C, which can increase the amount of iron that’s absorbed by your body

Diagnosing Hemochromatosis

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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.

Blood Testing

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.

DNA Testing

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.

Liver Biopsy

Your doctor may also do a liver biopsyThis 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.

How Is Hemochromatosis Treated?

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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.

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
  • a fear of needles
  • pain during the process
  • a concern that too much bleeding could cause anemia
  • discomfort with having 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’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.

What Complications Are Associated with Hemochromatosis?

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Most complications arise in the organs storing excess iron. This damage occurs over time. It tends to affect your: 

  • liver
  • pancreas
  • heart
  • skin 

The following are examples of what kind of damage can occur:

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

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: 

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

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