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What is hemochromatosis?
Hemochromatosis 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 untreated, it can, over many years, damage the body's organs.
What are the 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 one inherits genes from his or her parents, this type of the disease is also called hereditary hemochromatosis.
What are the symptoms?
Early indications of hemochromatosis include the following symptoms:
* Fatigue (feeling very tired)
* Weakness
* Weight loss
* Abdominal pain
* Joint pain
Because these symptoms also occur with other diseases, hemochromatosis can be difficult to diagnose in its early stages.
How is it detected?
The iron overload associated with hemochromatosis can be detected through two blood tests. The tests measure how much iron is in the body. You can have these tests done in your doctor's office.
If hemochromatosis is detected early, treatment can slow its progress and prevent serious problems. However, if the disease is not detected and treated early, it can cause more serious problems. These problems include arthritis, heart problems, and liver problems (such as cirrhosis and liver cancer).
What is the treatment?
Treatment consists of periodically 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.
Signs and 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 of Hemochromatosis
Early indications of hemochromatosis are often like those of other diseases and include the following symptoms:
* Fatigue (feeling very tired)
* Weakness
* Weight loss
* Abdominal 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 of Hemochromatosis
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 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
Key Point
Early symptoms of hemochromatosis, such as feeling very tired, pain in the joints, weakness, weight loss, and abdominal pain, are like the symptoms of other diseases, but may indicate the presence of iron buildup and hemochromatosis. Elevated liver enzyme tests may also indicate the presence of iron buildup and hemochromatosis.
Causes and Risk Factors
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 HFE gene - 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 HFE gene 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. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent.
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 listed in the following table.
Ethnic background
White 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.
Use of dietary supplements
Taking iron supplements or multivitamins with iron can speed up the rate at which iron builds up in the body. Persons 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. Persons 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.
Key Point
People with the HFE gene mutation may absorb extra iron from their diet each day. Over many years, this extra iron may cause a buildup of iron in the body that can lead to disease. Persons with hemochromatosis should not take pills containing iron.
Detection and 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 identified in people who have the disease.
If you think you have symptoms like those of hemochromatosis, (fatigue, weakness, abdominal pain and/or joint pain), or if you have a close relative 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 examination. 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 phlebotomy (pronounced "fle-bot-o-me") treatment.
Transferrin Saturation (TS) Test
You should not eat after midnight on the night before your blood is drawn for the transferrin saturation (TS) test.
If, on an empty stomach, your TS value is greater than 45%, you should have a serum ferritin test done.
Note that taking any of the following supplements or pills in the day prior to your blood draw 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.
Serum Ferritin (SF) Test
For information about interpreting the serum ferritin (SF) test, see the following table.
For women
If you have not been through menopause, an SF greater more than 200 ng/mL (nanograms per milliliter) means there is too much iron in your body. If you have been through menopause, an SF value greater than 300 ng/mL means there is too much iron in your body.
For men
An SF value greater than 300 ng/mL means there is too much iron in your 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.
Key Point
If you think you have symptoms like those of hemochromatosis or if you have a close blood relative who has hemochromatosis, you should ask your health care provider to check the amount of iron in your blood.
Treatment and Self-Care
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. The treatment 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 your 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, your doctor checks your hemoglobin and serum ferritin levels.
Long-term Maintenance Phase
Once the extra iron has been taken out, your 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, your doctor continues to check your hemoglobin and your serum ferritin levels.
Note
Hemoglobin is a protein that is a found in red blood cells; about 75% of the body's iron is bound to hemoglobin which is involved in oxygen transport from the lungs to the rest of the body.
Regular phlebotomy treatment keeps the amount of iron in your 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:
1. The blood collection center cannot charge a fee for collecting the blood.
2. The blood center must apply to the FDA to be exempt from the existing rules.
Key Point
Most people with hemochromatosis should be checked at least once a year to be sure that their iron level is within the normal range. If the iron level is too high, phlebotomy treatments are needed to keep extra iron from building up in the body.
Self-Care Tips
There is much you can do to make sure your life is as normal and healthy as possible.
Check-ups: Have the amount of iron in your blood checked regularly.
Phlebotomy: Make sure to get phlebotomies when you need them.
Iron pills: Don't take iron pills, supplements, or multivitamin supplements that have iron in them. Eating foods that contain iron is fine.
Vitamin C: Vitamin C increases the amount of iron your body absorbs. Avoid taking pills with more than 500 mg of vitamin C per day. Eating foods with vitamin C (such as oranges) is fine.
Food: Don't eat raw fish or raw shellfish. Cooking destroys germs harmful to people with hemochromatosis. People with hemochromatosis are at greater risk for bacteremia, a bacterial infection of the blood stream.
Alcohol: If you choose to drink alcohol, drink very little. Women should have no more than one drink a day. Men should have no more than two drinks a day. However, if you have liver damage, do not drink any alcohol.
Exercise: You can exercise as much as you want. The CDC and the American College of Sports Medicine offers the following physical activity recommendations:
Adults should engage in moderate-intensity physical activities (indicated by some increase in breathing or heart rate) for at least 30 minutes on most preferably all days of the week.
Key Point
Phlebotomy is the best treatment for hemochromatosis. Hemochromatosis cannot be treated by changing your diet alone.
Information for Relatives
If you find out that you have hemochromatosis, encourage your immediate family members (grandparents, parents, brothers, sisters, and adult children older than 25) to be tested for the amount of iron in their blood.
If you have hemochromatosis, your brother or sister has a 1 in 4 chance (25%) of having two HFE gene mutations.
If you have hemochromatosis, your children have about a 1 in 20 chance (5%) of having two HFE gene mutations.
It is important to remember that not all people with two HFE gene mutations will develop hemochromatosis.
In persons with a family history of hemochromatosis, genetic testing can determine who in the family does not have the HFE gene mutation. However, measuring the amount of iron in the blood is more helpful than genetic testing for detecting iron buildup and hemochromatosis.
Key Point
Measuring the amount of iron in the body with a simple blood test is more helpful than genetic testing for detecting iron buildup and hemochromatosis.