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Hemochromatosis Of all the minerals you need for good health, iron is one of the most familiar. But for people with hereditary hemochromatosis (HH), even small amounts of iron can cause serious problems. Iron does help form oxygen-carrying hemoglobin in your red blood cells, but it's also essential for a number of other body processes, including proper brain function, a strong immune system and healthy muscles.
That's because HH causes your body to absorb too much iron from the food you eat. The excess is stored in your organs, especially your liver, heart and pancreas. Sometimes the stored iron damages these organs, leading to life-threatening conditions such as cancer, heart problems and liver disease.
Signs and symptoms of HH usually appear in midlife, although they may occur earlier. The most common complaint is joint pain, but HH can also cause a number of other symptoms, including fatigue, abdominal pain and impotence. Though not always easy to diagnose, HH can be effectively treated by removing blood from your body to lower the level of iron.
Although the genetic defect that causes 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.
Some people with this disease 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. In addition, early signs and symptoms of hemochromatosis mimic those of many other common conditions, making it difficult to diagnose.
Signs and symptoms include:
Arthritis, especially in your hands
Loss of sex drive or impotence
Lack of normal menstruation
High blood sugar levels
Low thyroid function
Abnormal liver function tests, even if no other symptoms are present
In advanced stages of the disease, you may develop serious conditions such as:
Cirrhosis — a condition marked by irreversible scarring of the liver
Congestive heart failure
Some people with advanced hemochromatosis develop a bronze color to their skin when iron deposits in the skin cells produce excess melanin — the pigment that gives skin its normal color. Visible iron deposits can also make skin appear gray.
Iron plays an essential role in the formation of hemoglobin — a protein in red blood cells that transports oxygen from your lungs to all the tissues of your body — and of myoglobin, a form of hemoglobin in your muscles. Iron is also necessary for energy production and a strong immune system and is a component of many important enzymes.
You normally consume about 10 milligrams of iron every day in the food you eat. Of that, your body absorbs about 1 mg, or 10 percent of the iron you ingest. Most of this is stored in the hemoglobin, but a small amount is stored in your bone marrow, spleen and liver. When these stores are adequate, your body reduces the amount of iron absorbed by your intestine so that you don't accumulate excess amounts.
But if you have this disease, you may absorb as much as 20 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.
Although excess iron is a common problem, it's not always the result of this disease. Several factors, including frequent blood transfusions, high amounts of dietary iron and certain types of anemia, can cause excess iron in your body. People with chronic liver disease may also have increased iron levels. But in the United States, hemochromatosis is the most frequent cause of high blood iron levels.
. . . The genetics of hemochromatosis
You have approximately 30,000 genes — information centers in your cells that control your body's growth, development and function. A mutation in just one gene can drastically alter the way your body works.
The gene that controls the amount of iron you absorb from food is called HFE. The HFE gene has two common mutations, C282Y and H63D. In the United States, most people with hemochromatosis have inherited two copies of C282Y — one from each parent.
Inheriting just one gene with the C282Y mutation means you're a carrier. You aren't likely to develop the disease yourself, although you may absorb more iron than normal. About one in every 10 Caucasians carries one gene for hemochromatosis. If both your parents are carriers, you have a 25 percent chance of inheriting two mutated genes.
A few people inherit one copy of C282Y and one of H63D. Of these, a small percentage develop symptoms of hemochromatosis. An even smaller number of people inherit two copies of H63D. Whether they're at risk of this disease is a matter of debate.
Complicating matters further, not everyone with two C282Y gene mutations develops problems with iron overload. Experts aren't sure of the exact number of people who do, and it's not possible to determine who will experience symptoms and who won't.
In addition, researchers continue to discover new proteins and genes that are responsible for rare cases of iron overload and that may lead to symptoms in people with HFE-related disease.
. . . Other types of hemochromatosis
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 by age 30. Common complications include diabetes; problems with sexual development, which may lead to impotence, amenorrhea and infertility; an irregular heartbeat (heart arrhythmia); and heart failure — a condition in which your heart can't circulate enough blood to meet your body's needs. When not treated, this type can be fatal. Although it 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 in a baby's liver so rapidly that he or she may be stillborn or die within a few days of birth. Just what causes this is not known.
Doctors can treat hemochromatosis safely and effectively by removing blood from your body 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.
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 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 your veins and the consistency of your blood, the time needed to remove a pint of blood can range from 10 to 30 minutes. Once your iron levels have returned to normal, you may only need to have blood drawn four times a year.
. . . Donating your blood
Until recently, blood drawn from people with this disease was discarded. But in 1999, the Food and Drug Administration ruled that hemochromatosis blood could be donated to blood banks that applied to the FDA for a variance. You can contact a blood bank in your area to see whether it participates in this program. Or check the American Hemochromatosis Society Web site for more information.
. . . What you can expect from treatment
Treating this disease 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. People with cirrhosis are often monitored for liver cancer with an abdominal ultrasound and an alpha-fetoprotein blood test every six months.