Question: What is (are) Hemochromatosis ?
Answer: 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 the organ to not work well. Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes. If hemochromatosis isn't treated, it may even cause death. Overview The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. 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 genesone from each parentyou'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. However, 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. The severity of hemochromatosis also varies. Some people don't have complications, even with high levels of iron in their bodies. Others have severe complications or die from the disease. Certain factors can affect the severity of the disease. 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.
Source: NHLBI

Question: What causes Hemochromatosis ?
Answer: The two types of hemochromatosis are primary and secondary. Each type has a different cause. Primary Hemochromatosis Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. This form of the disease sometimes is called hereditary or classical hemochromatosis. Primary hemochromatosis is more common than the secondary form 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 faulty genes also can cause hemochromatosis. Researchers continue to study what changes to normal genes may cause the disease. Secondary Hemochromatosis Secondary 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 aceruloplasminemiaboth 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
Source: NHLBI

Question: Who is at risk for Hemochromatosis? ?
Answer: Hemochromatosis is one of the most common genetic diseases in the United States. It's most common in Caucasians of Northern European descent. The disease is less common in African Americans, Hispanics, Asians, and American Indians. Primary hemochromatosis is more common in men than in women. Also, 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).
Source: NHLBI

Question: What are the symptoms of Hemochromatosis ?
Answer: Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases. 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 signs of the disease. Signs and symptoms also vary based on the severity of the disease. Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and stomach pain. 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. 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 erectile dysfunction (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
Source: NHLBI

Question: How to diagnose Hemochromatosis ?
Answer: Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. The disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes, heart disease, or erectile dysfunction (impotence). Specialists Involved Family doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including: Hematologists (blood disease specialists) Cardiologists (heart specialists) Endocrinologists (gland system specialists) Hepatologists (liver specialists) Gastroenterologists (digestive tract specialists) Rheumatologists (specialists 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 their severity. 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. Certain blood tests can help your doctor find out how much iron is in your body. During these tests, a sample 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 your doctor find out 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 have hemochromatosis, liver function tests may show the severity of the disease. 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 looked at under a microscope. A liver biopsy can show how much iron is in your liver. This procedure also can help your doctor 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. This machine is 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'll develop 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. People who have hemochromatosis (or a family history of it) and are planning to have children may want to consider genetic testing and counseling. Testing 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.
Source: NHLBI

Question: How to prevent Hemochromatosis ?
Answer: 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, go to "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. Testing 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.
Source: NHLBI