What Is Hemochromatosis? Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods. Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas. Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes it to not work properly. Too much iron in the heart can cause arrhythmias (ah-RITH-me-ahs), or irregular heartbeats, and heart failure. Too much iron in the pancreas can lead to diabetes. If hemochromatosis isn't treated, it may even cause death. Overview There are two types of hemochromatosis: primary and secondary. A defect in the genes that control how much iron you absorb from food causes primary hemochromatosis. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genes—one from each parent—you're at risk for iron overload and signs and symptoms of the disease. The two faulty genes cause your body to absorb more iron than usual from the foods you eat. Hemochromatosis is one of the most common genetic disorders in the United States. About 1 million people in the United States have the disease. Not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms.   Buy Zithromax for treating bacterial infections, skin infections, sexually transmitted infectious diseases, urethritis. medicstar.com Buy Propecia Propecia is used to treat hair loss. Propecia is not addictive. www-medic.com Buy Brand Viagra Viagra is applied for the treatment of erectile dysfunction in men. Buy Viagra Super Force Buy Amoxicillin one of the best antibiotic. Amoxicillin used to treat infections caused by certain bacteria. medicstar.com The severity of hemochromatosis also varies from person to person. Some people don't have complications, even with high amounts of iron in their bodies. Others have severe complications or die from the disease. Certain factors can affect how severe the disease is. For example, a high intake of vitamin C can make hemochromatosis worse. This is because vitamin C helps your body absorb iron from food. Alcohol use can worsen liver damage and cirrhosis caused by hemochromatosis. Conditions such as hepatitis also can further damage or weaken the liver. Outlook The outlook for people who have hemochromatosis largely depends on how much organ damage they have at the time of diagnosis. Early diagnosis and treatment of the disease are important. Treatment may help prevent, delay, or sometimes reverse complications of the disease. Treatment also may lead to better quality of life. For people who are diagnosed and treated early, a normal lifespan is possible. If left untreated, hemochromatosis can lead to severe organ damage and even death. Other Names for Hemochromatosis Acquired hemochromatosis Classical hemochromatosis Genetic hemochromatosis Genetic iron poisoning Hereditary hemochromatosis Iron overload disease Primary hemochromatosis Secondary hemochromatosis What Causes Hemochromatosis? There are two types of hemochromatosis: primary and secondary. Each type has a different cause. Primary Hemochromatosis A defect in the genes that control how much iron you absorb from food causes primary hemochromatosis. This form of the disease is sometimes called hereditary or classical hemochromatosis. Primary hemochromatosis is the most common type of the disease. The genes usually involved in primary hemochromatosis are called HFE genes. Faulty HFE genes cause the body to absorb too much iron. If you inherit two copies of the faulty HFE gene (one from each parent), you're at risk for iron overload and signs and symptoms of hemochromatosis. If you inherit one faulty HFE gene and one normal HFE gene, you're a "hemochromatosis carrier." Carriers usually don't develop the disease. However, they can pass the faulty gene on to their children. Estimates suggest that about 1 in 10 people in the United States are hemochromatosis carriers. If two parents are carriers of the faulty HFE gene, then each of their children has a 1 in 4 chance of inheriting two faulty HFE genes. Although less common, other abnormal genes also can cause hemochromatosis. Researchers continue to study what changes to normal genes may cause the disease. Secondary Hemochromatosis This type of hemochromatosis usually is the result of another disease or condition that causes iron overload. Examples of such diseases and conditions include: Certain types of anemia, such as thalassemias and sideroblastic anemia Atransferrinemia and aceruloplasminemia—both are rare, inherited diseases Chronic liver diseases, such as chronic hepatitis C infection, alcoholic liver disease, or nonalcoholic steatohepatitis Other factors also can cause secondary hemochromatosis, including: Blood transfusions Oral iron pills or iron injections, with or without very high vitamin C intake (vitamin C helps your body absorb iron) Long-term kidney dialysis Who Is At Risk for Hemochromatosis? Hemochromatosis is one of the most common genetic diseases in the United States. About 1 million people in the United States it. Hemochromatosis is most common in Caucasians of Northern European descent. The disease is uncommon in African Americans, Hispanics, Asians, and American Indians. Hemochromatosis is more common in men than in women. Older people are more likely to develop the disease than younger people. In fact, signs and symptoms usually don't occur in men until they're 40 to 60 years old. In women, signs and symptoms usually don't occur until after the age of 50 (after menopause). Young children rarely develop hemochromatosis. Inheriting two faulty HFE genes (one from each parent) is the major risk factor for hemochromatosis. However, many people who have two copies of the faulty gene don't develop signs or symptoms of the disease. Alcoholism is another risk factor for hemochromatosis. A family history of certain diseases and conditions also puts you at higher risk for hemochromatosis. Examples of such diseases and conditions include heart attack, liver disease, diabetes, arthritis, and erectile dysfunction (impotence). What Are the Signs and Symptoms of Hemochromatosis? Hemochromatosis can affect many parts of the body and can cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases. As many as half of the people who have hemochromatosis may not have signs or symptoms. Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue (tiredness). In men, complications such as diabetes or cirrhosis (scarring of the liver) often are the first sign of the disease. Signs and symptoms also vary based on how severe the disease is. Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and abdominal pain. Hemochromatosis Complications If hemochromatosis isn't found and treated early, iron builds up in your body and can lead to: Liver disease, including an enlarged liver, liver failure, liver cancer, or cirrhosis (scarring of the liver) Heart problems, including arrhythmias (irregular heartbeats) and heart failure Diabetes, especially in people who have a family history of diabetes Joint damage and pain, including arthritis Reproductive organ failure, such as impotence, shrinkage of the testicles, and loss of sex drive in men, and absence of the menstrual cycle and early menopause in women Changes in skin color that make the skin look gray or bronze Underactive pituitary and thyroid glands Damage to the adrenal glands How Is Hemochromatosis Diagnosed? Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. The disease is sometimes found during the diagnosis of other diseases or conditions such as arthritis, liver disease, diabetes, heart disease, and impotence. Specialists Involved Family doctors or internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including: A hematologist (blood disease specialist) A cardiologist (heart specialist) An endocrinologist (gland system specialist) A hepatologist (liver specialist) A gastroenterologist (digestive tract specialist) A rheumatologist (specialist in diseases of the joints and tissues) Medical and Family Histories To learn about your medical and family histories, your doctor may ask: About your signs and symptoms, including when they started and how severe they are. Whether you take iron (pills or injections) with or without vitamin C supplements (vitamin C helps your body absorb iron from food). If so, your doctor may ask how much iron you take. This information can help him or her diagnose secondary hemochromatosis. Whether other members of your family have hemochromatosis. Whether other members of your family have a history of medical problems or diseases related to hemochromatosis. Physical Exam Your doctor will do a physical exam to check for signs and symptoms of hemochromatosis. He or she will listen to your heart for irregular heartbeats and check for arthritis, abnormal skin color, and an enlarged liver. Diagnostic Tests and Procedures Your doctor may recommend one or more tests or procedures to diagnose hemochromatosis. Blood Tests In hemochromatosis, the amount of iron in your body may be too high even though the level of iron in your blood is normal. As a result, doctors use certain blood tests that give clues about how much iron is in your body. During these tests, a small amount of blood is taken from your body. It's usually drawn from a vein in your arm using a needle. The procedure usually is quick and easy, although it may cause some short-term discomfort. The blood tests you have may include transferrin saturation (TS), serum ferritin level, and liver function tests. Transferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps tell your doctor how much iron is in your body. Your doctor may test your serum ferritin level if your TS level is high. A serum ferritin level test shows how much iron is stored in your body's organs. A buildup of iron may suggest hemochromatosis. You may have liver function tests to check for damage to your liver. Liver damage may be a sign of hemochromatosis. If you've been diagnosed with hemochromatosis, liver function tests may show how severe the disease is. Blood tests alone can't diagnose hemochromatosis. Thus, your doctor may recommend other tests as well. Liver Biopsy During a liver biopsy, your doctor numbs an area near your liver and then removes a small sample of liver tissue using a needle. The tissue is then examined under a microscope. A liver biopsy can show how much iron is in your liver. This procedure also can diagnose liver damage (for example, scarring and cancer). Liver biopsies are less common now than in the past. Magnetic Resonance Imaging Magnetic resonance imaging (MRI) is a safe test that uses radio waves, magnets, and a computer to create pictures of your organs. An MRI may be done to show the amount of iron in your liver. Superconducting Quantum Interference Device A superconducting quantum interference device (SQuID) is a machine that uses very sensitive magnets to measure the amount of iron in your liver. It's available at only a few medical centers. Genetic Testing Genetic testing can show whether you have a faulty HFE gene or genes. However, even if you do have two faulty HFE genes, the genetic test can't predict whether you will develop the signs and symptoms of hemochromatosis. Also, genetic testing may not detect other, less common faulty genes that also can cause hemochromatosis. There are two ways to do genetic testing. Cells can be collected from inside your mouth using a cotton swab or a sample of blood can be drawn from a vein in your arm and then tested. People who have hemochromatosis or a family history of it and are planning to have children may want to consider genetic testing and counseling. This will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children. How Is Hemochromatosis Treated? Treatments for hemochromatosis include therapeutic phlebotomy (fle-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications. Goals of Treatment The goals of treating hemochromatosis include: Reducing the amount of iron in your body to normal levels Preventing or delaying organ damage from iron overload Treating complications of the disease Maintaining a normal amount of iron in your body for the rest of your life Therapeutic Phlebotomy Therapeutic phlebotomy is a procedure that removes blood (and iron) from your body. For this procedure, a needle is inserted into your vein, and your blood flows through an airtight tube into a sterile container or bag. The process is similar to donating blood and can be done at blood donation centers, hospital donation centers, or a doctor's office. In the first stage of treatment, about 1 pint of blood is removed once or twice a week. After your iron levels return to normal, you may continue phlebotomy treatments. However, you may need them less often—typically every 3 months. As long as treatment continues, which is often for the rest of your life, your doctor will order frequent blood tests to check your iron levels. Iron Chelation Therapy Iron chelation therapy uses medicine to remove excess iron from your body. This treatment is a good option for people who can't have routine blood removal. The medicine used in iron chelation therapy is either injected or taken orally. Injected iron chelation therapy is done at a doctor's office. Oral iron chelation therapy can be done at home. Dietary Changes Your doctor may suggest that you change your diet if you have hemochromatosis. You may be advised to: Avoid taking iron, including iron pills, iron injections, or multivitamins that contain iron. Limit your intake of vitamin C. Vitamin C helps your body absorb iron from food. Talk to your doctor about how much vitamin C is safe for you. Avoid uncooked fish and shellfish. Some fish and shellfish contain bacteria that can cause infections in people who have chronic diseases, such as hemochromatosis. Limit alcohol intake. Drinking alcohol increases the risk for liver disease and can make liver disease worse. Treatment for Complications Your doctor may prescribe other treatment as needed for complications such as liver disease, heart problems, or diabetes. How Can Hemochromatosis Be Prevented? You can't prevent primary, or inherited, hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. In those who do, treatments can keep the disease from getting worse. Treatments include therapeutic phlebotomy, iron chelation therapy, dietary changes, and other treatments. For more information, see "How Is Hemochromatosis Treated?" People who have hemochromatosis or a family history of it and are planning to have children may want to consider genetic testing and counseling. This will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children. Living With Hemochromatosis The outlook for people who have hemochromatosis largely depends on how much organ damage has already occurred at the time of diagnosis. Early diagnosis and treatment of the disorder are important. Treatment may help prevent, delay, or sometimes reverse complications of the disorder. Treatment also may lead to higher energy levels and better quality of life. With early diagnosis and treatment, a normal lifespan is possible. If organ damage has already occurred, treatment may prevent further damage and improve life expectancy. However, treatment may not be able to reverse existing damage. If hemochromatosis isn't treated, it can lead to severe organ damage or even death. What To Expect After Treatment People have different responses to treatment. Some people who have frequent therapeutic phlebotomy may feel very tired. People who have advanced disease or who are getting aggressive (very strong) treatment that weakens them may need help with daily tasks and activities. For the first 6 months to 3 years after diagnosis, you may need to have therapeutic phlebotomy often. How long you will need this treatment depends on how much extra iron is in your body. After the initial treatment period, you may need ongoing treatment two to six times a year. This will help prevent the iron from building up again. Ongoing Care If you have hemochromatosis, getting ongoing care is important. Ongoing care may include: Continuing therapeutic phlebotomy Taking medicines as prescribed Contacting your doctor right away about new or worsening symptoms, or about possible reactions to phlebotomy Following up regularly with your doctor about test results, ongoing treatments, and annual exams Using a diary or log to track the amount of iron in your body If you need routine phlebotomy, you may have to change your usual work times to schedule your treatments. You also may have to change your work schedule to allow for periods of fatigue (tiredness) or recovery, especially if your treatment weakens you. Emotional Issues Having hemochromatosis may cause fear, anxiety, depression, and stress. It's important to talk about how you feel with your health care team. Talking to a professional counselor also can help. If you're feeling very depressed, your health care team or counselor may prescribe medicines to make you feel better. Joining a patient support group may help you adjust to living with hemochromatosis. You can see how other people who have the same symptoms have coped with them. Talk to your doctor about local support groups or check with an area medical center. Support from family and friends also can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you. Screening Family Members for Hemochromatosis Parents, grandparents, brothers and sisters, and children (blood relatives) of a person who has hemochromatosis may be at risk for the disease. Talk with your doctor to see whether your relatives should have their iron levels checked. Your doctor may recommend genetic testing to show whether family members are at risk for the disease. If a relative already has been diagnosed with hemochromatosis, a genetic test can show whether he or she has primary (inherited) disease. Key Points Hemochromatosis is a disease in which too much iron builds up in your body (iron overload). If the disease isn't detected and treated early, it can lead to serious problems, including liver disease, heart disease, diabetes, arthritis, impotence, abnormal menstrual cycles, pituitary and thyroid problems, and changes in skin color. If hemochromatosis isn't treated, it may even cause death. There are two types of hemochromatosis: primary and secondary. A defect in the genes that control how much iron you absorb from food causes primary hemochromatosis. Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genes—one from each parent—you're at risk for iron overload and signs and symptoms of the disease. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload, such as certain types of anemia. Hemochromatosis is one of the most common genetic disorders in the United States. About 1 million people in the United States have it. The disease is most common in Caucasians of Northern European descent. It's also more common in men and older people. Hemochromatosis can affect many parts of the body and cause a number of signs and symptoms. The signs and symptoms of the disease don't usually appear until at least age 40 in men and age 50 in women. Common signs and symptoms include joint pain, fatigue (tiredness), general weakness, weight loss, and abdominal pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments for hemochromatosis include therapeutic phlebotomy, iron chelation therapy, dietary changes, and treatment for complications. Your doctor may recommend frequent therapeutic phlebotomy at first to get the amount of iron in your body back to normal. After your iron levels return to normal, you may continue phlebotomy treatments, but get them less often. You can't prevent inherited hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. If you do develop symptoms or complications, treatments can keep the disease from getting worse. Family members (blood relatives) of people who have hemochromatosis should consider having a doctor check their iron levels. The outlook for people who have hemochromatosis largely depends on how much organ damage has already occurred at the time of diagnosis. Early diagnosis and treatment are important. Treatment may help prevent, delay, or reverse complications. With early diagnosis and treatment, a normal lifespan is possible. Other Information About Hemochromatosis Recommended Hemochromatosis Resources  The Hemochromatosis Cookbook: Recipes and Meals for Reducing the Absorption of Iron in Your Diet   The Iron Disorders Institute Guide to Hemochromatosis   Exposing the Hidden Dangers of Iron: What Every Medical Professional Should Know About the Impact of Iron on the Disease Process   The Bronze Killer (Kindle)   Medifocus Guidebook on: Hereditary Hemochromatosis (Kindle)   HEREDITARY HEMOCHROMATOSIS Preventing chronic effects of this underdiagnosed disorder (Kindle)  NHLBI Resources NHLBI-Related Public Interest Organizations Non-NHLBI Resources Hemochromatosis (MedlinePlus) Hemochromatosis (National Institute of Diabetes and Digestive and Kidney Diseases) Clinical Trials Current Research (ClinicalTrials.gov)