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Early signs and symptoms of hereditary hemochromatosis mimic those of many other common conditions, making it difficult to diagnose. Signs and symptoms include:

• Joint pain
• Fatigue
• Loss of sex drive (libido) or impotence
• Lack of normal menstruation (amenorrhea)
• Pain on the upper right portion of the abdomen

Some people with hereditary hemochromatosis never have symptoms. Others experience a wide range of problems. These can vary considerably from person to person and may be different for men and women.

When signs and symptoms typically appear
Although hereditary hemochromatosis is present at birth, most people don't experience signs and symptoms until later in life — usually between the ages of 30 and 50 in men and after age 50 in women. Women are more likely to have symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.

When to see a doctor
See your doctor if you experience any of the signs and symptoms of hereditary hemochromatosis. If you have an immediate family member who has hemochromatosis, ask your doctor about genetic tests that can determine if you have inherited the gene that increases your risk of hemochromatosis. Monitoring and treatment can help you avoid complications.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. The mutations that cause hereditary hemochromatosis are passed from parents to children.

Gene mutations that cause hemochromatosis
The gene that is mutated most often in people with hereditary hemochromatosis is called HFE. You inherit one HFE gene from each of your parents. If both parents pass mutated HFE genes to you, you may develop hemochromatosis. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.

• If you inherit two abnormal genes, you may develop hemochromatosis. Not everyone with two abnormal genes develops signs and symptoms of hemochromatosis. You can also pass the mutation on to your children.
• If you inherit one abnormal gene, you won't develop hemochromatosis. But your body may absorb more iron than normal. You are considered a gene mutation carrier and can pass the mutation on to your children.

How hemochromatosis affects your organs
Iron plays an essential role in several body functions, including helping with the formation of blood. Most people absorb about 10 percent of the iron they ingest. When these stores are adequate, the body reduces the amount of iron absorbed by the intestine to avoid accumulating excess amounts.

But if you have hereditary hemochromatosis, you may absorb as much as 30 percent of the iron you ingest. Because your body can't use or eliminate this extra iron, it's stored in the tissues of major organs, especially your liver. Eventually you may accumulate five to 20 times as much iron as normal. Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.

Other types of hemochromatosis
Other forms of hemochromatosis include:

• Juvenile hemochromatosis. This causes the same problems in young people that hereditary hemochromatosis causes in adults. But iron accumulation begins much earlier and symptoms usually appear between the ages of 15 and 30. Although juvenile hemochromatosis is an inherited disease, the genetic abnormalities that cause it don't involve the HFE gene. Instead, it's caused by a mutation in a gene called hemojuvelin.
• Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in a baby's liver and can cause death.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Factors that increase your risk of hereditary hemochromatosis include:

• Having two copies of a mutated HFE gene. This is the greatest risk factor for hereditary hemochromatosis.
• Family history. If you have a first-degree relative — a parent or sibling — with hemochromatosis, you're more likely to develop the disease.
• Ethnicity. People of Northern European descent are more prone to hereditary hemochromatosis than are people of other ethnic backgrounds. Hemochromatosis is less common in African-Americans, Hispanics and Asian-Americans.
• Being a man. Men are more likely to develop signs and symptoms of hemochromatosis at an earlier age. Because women lose iron through menstruation and pregnancy, they tend to store less of the mineral than men do. After menopause or a hysterectomy, the risk for women increases.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Untreated, hereditary hemochromatosis can lead to a number of complications, especially in your joints and in organs where excess iron tends to be stored — your liver, pancreas and heart. Complications can include:

• Liver problems. Because your liver is a primary storage area for excess iron, it's especially likely to be damaged by hemochromatosis. Cirrhosis — permanent scarring of the liver — is just one of the problems that may occur. Cirrhosis increases your risk of liver cancer and other life-threatening complications.
• Pancreas problems. Hemochromatosis can damage the pancreas, which can cause diabetes.
• Heart problems. Hemochromatosis can cause excess iron in your heart, which affects the heart's ability to circulate enough blood for your body's needs. This is called congestive heart failure. Hemochromatosis can also cause abnormal heart rhythms (arrhythmias). Arrhythmias can cause heart palpitations, chest pain and lightheadedness.
• Skin color changes. Deposits of iron in skin cells can make your skin appear bronze or gray in color.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
Read this article on Mayoclinic.com.

Make an appointment with your family doctor if you have any signs or symptoms that worry you. Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready for your appointment, and what to expect from your doctor.

What you can do

• Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
• Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
• Write down key personal information, including any major stresses or recent life changes. Learn if you have any liver disease in your family by asking your family members, if possible.
• Make a list of all medications, as well as any vitamins or supplements, that you're taking.
• Take a family member or friend along. Sometimes it can be difficult to absorb all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
• Write down questions to ask your doctor.

Your time with your doctor is limited, so preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For hereditary hemochromatosis, some basic questions to ask your doctor include:

• What is likely causing my symptoms or condition?
• Are there other possible causes for my symptoms or condition?
• What kinds of tests do I need?
• Is my condition likely temporary or chronic?
• What is the best course of action?
• What are the alternatives to the primary approach that you're suggesting?
• I have these other health conditions. How can I best manage them together?
• Are there any restrictions that I need to follow?
• Should I see a specialist? What will that cost, and will my insurance cover it?
• Are there any brochures or other printed material that I can take with me? What websites do you recommend?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment.

What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may allow time to go over additional points you want to discuss. Your doctor may ask:

• When did you begin experiencing symptoms?
• Have your symptoms been continuous or occasional?
• How severe are your symptoms?
• What, if anything, seems to improve your symptoms?
• What, if anything, appears to worsen your symptoms?
• Does anyone in your family have hemochromatosis?
• How many alcoholic beverages do you drink in a week?
• Do you have a history of viral hepatitis, such as hepatitis C?

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Hereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue can result from a number of conditions that are more common than hemochromatosis.

Blood tests
Doctors can detect iron overload with two blood tests:

• Serum transferrin saturation. This test measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45 percent are considered too high.
• Serum ferritin. This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.

Because a number of infectious and inflammatory conditions other than hereditary hemochromatosis can cause elevated ferritin, both blood tests are needed to diagnose the disorder. You may need to have the tests repeated for the most accurate results.

Additional testing
To confirm a diagnosis of hereditary hemochromatosis, your doctor may suggest other tests, including:

• Testing for gene mutations. Your doctor can test a sample of your DNA for mutations in the HFE gene. This test can help confirm a diagnosis of hereditary hemochromatosis. If you're considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor or a genetic counselor.
• Removing a sample of liver tissue for testing. During a liver biopsy, your doctor removes a sample of tissue from your liver, using a thin needle. The sample is sent to a laboratory where it's checked for the presence of iron as well as for evidence of liver damage, especially scarring or cirrhosis. Risks of biopsy include bruising, bleeding and infection.

Screening healthy people for hemochromatosis
In some cases, your doctor may recommend a blood test to determine if you have hemochromatosis even if you don't have any signs or symptoms. People considered to have a high risk of hemochromatosis may undergo screening tests to determine whether they have the condition before complications can occur. If you're concerned about your risk of hemochromatosis, talk to your doctor about your risk factors.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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Blood removal
Doctors can treat hereditary hemochromatosis safely and effectively by removing blood from your body (phlebotomy) on a regular basis, just as if you were donating blood. But in this case, the goal is to reduce your iron levels to normal. The amount of blood drawn depends on your age, your overall health and the severity of iron overload. Some people need many phlebotomies to achieve normal iron levels.

• Initial treatment schedule. Initially, you may have a pint of blood taken once or twice a week — usually in a hospital or your doctor's office. This process shouldn't be too uncomfortable. While you recline in a chair, a needle is inserted into a vein in your arm. The blood flows from the needle into a tube that's attached to a blood bag. Depending on the condition of your veins and the consistency of your blood, the time needed to remove a pint of blood can range from 10 to 30 minutes.
• Maintenance treatment schedule. Once your iron levels have returned to normal, you may need to have blood drawn only four to six times a year.

Treating hereditary hemochromatosis before damage to your organs has occurred prevents serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease, and in some cases even reverse it. If you have cirrhosis, your doctor may recommend periodic screening for liver cancer. This usually involves an abdominal ultrasound and a blood test.

A medication for those who can't undergo blood removal
In certain situations, such as if you can't undergo phlebotomy or if you have heart complications caused by your hemochromatosis, your doctor may recommend a medication that causes your body to expel some iron from your blood. The medication can be injected into your body by your doctor or it can be taken as a pill at home. The medication causes your body to expel iron through your urine or stool in a process that's sometimes called chelation. Side effects can include pain and redness where the medication was injected, as well as flu-like symptoms.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
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You may reduce your risk of complications from hemochromatosis if you:

• Avoid iron supplements and multivitamins containing iron. These can increase your iron levels even more.
• Avoid vitamin C supplements, especially with food. Vitamin C increases absorption of iron. Try to drink vitamin C-rich juices, such as orange juice, between meals.
• Avoid alcohol. Alcohol increases the risk of liver damage. If you have liver disease and hereditary hemochromatosis, avoid alcohol completely.
• Avoid eating raw shellfish. People with hereditary hemochromatosis are susceptible to infections, especially those caused by certain bacteria in raw shellfish.

©1998-2012 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
Read this article on Mayoclinic.com.