Facts

Hemochromatosis (called iron storage disease) occurs when the body absorbs too much iron from foods and other sources such as vitamins containing iron. This disease causes extra iron to gradually build up in the body’s tissues and organs, a term called iron overload. If this iron buildup is not treated, it can, over many years, damage the body’s organs.

Signs & Symptoms

Hemochromatosis can have a variety of symptoms and symptoms may be different for men and women. Hemochromatosis can be hard to identify because early symptoms are similar to those of many other common diseases.
Although most people reach middle-age before they have symptoms of hemochromatosis, some people may have symptoms at a younger age. The symptoms depend on which organs are being affected by the iron buildup.

Early Symptoms

• Fatigue (feeling very tired)
• Weakness
• Weight loss
• Abdominal (belly) pain
• Joint pain

As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:

• Loss of menstrual periods or early menopause
• Loss of sex drive (libido) or impotence
• Loss of body hair
• Shortness of breath
• Although not a physical symptom, another possible indication of hemochromatosis is having an elevated liver enzyme test.

Advanced Symptoms

As the disease progresses, hemochromatosis may cause the following more serious problems:

• Arthritis
• Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
• High blood sugar and diabetes
• Abdominal (belly) pain that does not go away
• Severe fatigue (feeling extremely tired and having a lack of energy)
• Heart problems (such as a heart beat that is not regular)
• Heart failure (such as the heart not pumping blood as well as it did previously)
• Gray-colored or bronze-colored skin

Risk Factors & Causes

Although hemochromatosis can have other causes, in the United States the disease is usually caused by a genetic disorder. A person who inherits the defective gene from both parents may develop hemochromatosis. The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. Because people inherit genes from their parents, this type of the disease is also called hereditary hemochromatosis.

Diagnosis
The iron overload associated with hemochromatosis can be diagnosed through two blood tests. The tests measure how much iron is in the body. People can have these tests done in their doctor’s office.

If hemochromatosis is found early, treatment can slow its progress and prevent serious problems. However, if the disease is not diagnosed and treated early, it can cause more serious problems. These problems include arthritis, heart problems, and liver problems (such as cirrhosis and liver cancer).

Treatment
Treatment consists of taking blood from the arm, much like giving blood. The treatment is safe and effective. Patients can expect a normal life span if they start treatment before organ damage has begun.

Who is Affected
In the United States more than one million people have the gene mutation that can cause hemochromatosis. This gene mutation is most common among people whose ancestors came from Europe. Not all people with this gene mutation develop iron overload, and not all people with iron overload develop the signs and symptoms of hemochromatosis.

Risk Factors & Causes

In the United States, the most common form of hemochromatosis in adults is called hereditary hemochromatosis or classic hemochromatosis. This form of the disease is caused by a defect in the genes that control how iron is absorbed by the body.

Causes

The amount of iron the human body absorbs is controlled by many genes. Genes can sometimes change (or mutate) in ways that keep them from working properly.
Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the HFEgene — one from each parent. Men and women have the same chance of inheriting two copies of this gene.
Not everyone who is born with two copies of the mutated HFE gene develops the disease. Scientists do not know what percentage of people who have two copies of the mutated HFEgene develop the disease. Some studies have shown that as few as 1 in 100 people will develop symptoms. Other studies have shown that as many as 50 in 100 people may develop symptoms.
A person with only one copy of the mutated HFE gene is usually healthy and is said to be a “carrier” of the genetic condition. Carriers usually do not have hemochromatosis. However, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent. The child may have hemochromatosis.

Risk Factors

People who inherit the HFE gene mutation from both parents are at the greatest risk for developing hemochromatosis. Although both men and women can inherit the gene defect, men are more likely to be diagnosed with the effects of hemochromatosis than women.
Other factors that increase risk are:

• Ethnicity
  
  People of northern European descent (for example, families from England, Ireland, Scotland, Denmark, France, and Scandinavia) have a higher chance of having the HFE gene mutation.
• Family history
  
  People with a close relative (grandparent, mother, father, sibling, niece, nephew) who has hemochromatosis have a higher chance of having the HFE gene mutation.

Factors That May Affect Iron Buildup

For people at risk of developing hemochromatosis, the speed at which iron builds up and the severity of the symptoms vary from person to person. Many people do not have any early symptoms. Symptoms tend to occur in men between the ages of 30 and 50 and in women over age 50.

The following factors may affect the buildup of iron in the body and may speed up or slow down the development of hemochromatosis:

• Using dietary supplements
  
  Taking iron supplements or multivitamins with iron can speed up the rate at which iron builds up in the body. People with hemochromatosis should not take pills containing iron. Eating foods that contain iron is fine.
  
  Taking vitamin C supplements may cause the body to absorb more iron. People with hemochromatosis should not take pills with more than 500 milligrams of vitamin C per day. Eating foods that contain vitamin C is fine.
• Blood loss
  
  Losing iron by giving blood and losing iron through menstruation and unrecognized bleeding may slow the start of hemochromatosis. Therefore, men at risk for hemochromatosis usually develop the disease and its symptoms at a younger age than women who are at risk.

Diagnosis

Most regular medical check-ups do not include tests to measure the amount of iron in the body. For that reason, hemochromatosis is often not found in people who have the disease.
If you think you have symptoms like those of hemochromatosis, (tiredness, weakness, belly pain, or joint pain), or if you have a close relative (grandparent, mother, father, sibling, niece, nephew) who has hemochromatosis, you should ask your health care provider to check the amount of iron in your blood.
Early detection of iron buildup is important because prompt diagnosis and treatment of hemochromatosis can help prevent the more serious problems caused by the disease.
To see if you might be at risk for hemochromatosis, a doctor will take a complete medical history and give you a physical exam. Having information about your family’s health history is also helpful.
To check the amount of iron in your body, a doctor can use two simple blood tests:

• Transferrin saturation (TS) test
• Serum ferritin (SF) test

If these tests show that you have too much iron in your body, you will need to start treatment.

Transferrin Saturation (TS) Test

Transferrin saturation (TS) test is a simple blood test.
You should not eat after midnight on the night before your blood is drawn for the transferrin saturation (TS) test.
Note that taking any of the following supplements or pills in the day before to your blood test can make TS values higher than normal:

• Multivitamins with iron
• Multivitamins or pills with vitamin C
• Medicinal iron

If you take any of these supplements or pills, you should not use them for 24 hours before blood is drawn for the TS test.
If, on an empty stomach, your TS value is greater than 45%, you should have another test done, called the serum ferritin test.

Serum Ferritin (SF) Test

Serum ferritin (SF) test is a simple blood test.
Interpreting the serum ferritin (SF) test:

Women

• For women who have not been through menopause, an SF greater more than 200 ng/mL (nanograms per milliliter) means there is too much iron in the body.
• For women who have been through menopause, an SF value greater than 300 ng/mL means there is too much iron in the body.

Men

• An SF value greater than 300 ng/mL means there is too much iron in the body.

These blood tests, a thorough medical history, and a physical examination may also help rule out other conditions that could be causing the symptoms.

Treatment

Hemochromatosis can be treated simply and successfully. The treatment, called phlebotomy (pronounced “fle-bot-o-me”), removes blood to lower the amount of iron in the body. It is similar to giving blood and is the best way to treat the disease.
If phlebotomy treatment is started before too much iron has built up in the body, it can stop many of the serious problems of hemochromatosis.

• If you have no organ damage and get proper care, you can expect to live a normal life.
• If you already have organ damage, treatment can stop additional damage, but it cannot reverse damage that has already started.
• Even if you have developed serious problems, treatment can lessen many symptoms and improve your quality of life.

Important things to know about phlebotomy treatment for hemochromatosis:

• Drink plenty of water, milk, or fruit juices both before and after the treatment.
• Avoid vigorous physical activity for 24 hours after your phlebotomy treatment.
• Be sure to keep your phlebotomy appointments as directed by your doctor.

Treatment Process

The phlebotomy treatment consists of two phases: an “iron reduction” phase and the long-term maintenance phase.

Iron Reduction Phase

In the iron reduction phase, a health care professional removes about one pint of whole blood, usually once or twice a week.
This phase usually lasts until all of the extra iron stored in the body has been removed. It can take three months to one year, but the time varies from person to person. Age, gender, the cause of the iron overload, and severity of symptoms all affect how long this phase takes. During this phase, the doctor checks hemoglobin and serum ferritin levels.

Long-term Maintenance Phase

Once the extra iron has been taken out, the doctor will set up a long-term maintenance program to make sure you keep a normal amount of iron in your body.
How often a person needs phlebotomy during this phase varies based on the severity of the symptoms. During this phase, the doctor continues to check hemoglobin and your serum ferritin levels.
Regular phlebotomy treatment keeps the amount of iron in the body at a normal level. A normal amount of iron is between 25 and 50 ng/mL (nanograms per milliliter).

• Men usually need to have 3 to 4 pints of blood taken out each year (about once every 3 months) to maintain this level.
• Women may need to have 1 to 2 pints of blood taken out each year (about once every 6 months) to maintain this level.
• Some people, especially older people, may not need to have any more treatments, but they should still have their serum ferritin level checked at least once a year.

If you have hemochromatosis, you should have your serum ferritin level checked at least once a year. Doing so can help keep your iron level within the normal range and avoid the serious problems caused by too much iron.

Donating Blood

Many patients and their doctors ask if it is safe for people with hemochromatosis to give blood. The U.S. Food and Drug Administration (FDA) has stated that blood from hemochromatosis patients can be used for people needing blood if the facility where the blood is donated meets the following rules:

• The blood collection center cannot charge a fee for collecting the blood.
• The blood center must apply to the FDA to be exempt from the existing rules.