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Hemochromatosis
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Hemochromatosis (HH)

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Hemochromatosis causes your body to store large amounts of iron, which can cause life-threatening complications. But a safe and effective treatment exists. Of all the minerals needed for good health, iron is one of the most familiar. After all, the producers of everything from breakfast cereals to vitamin tonics tell us that iron builds rich, red blood. 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. Yet for people with hereditary hemochromatosis (HH), even small amounts of iron can cause serious problems.

That's because this disorder 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.

Most people with hemochromatosis have inherited one defective gene for the disorder from each parent. In fact, hemochromatosis is the most common single-gene inherited disorder in whites, affecting 1 in every 200 people. Still, having two defective genes doesn't necessarily mean you'll get the disease — not all people who are genetically predisposed develop hemochromatosis. People with just one copy of the gene are carriers for hemochromatosis, but normally don't develop the disease.

Signs and symptoms of hemochromatosis usually appear in midlife, although they may occur earlier. The most common complaint is joint pain, but the disease can also cause a number of other symptoms, including fatigue, abdominal pain and impotence.

The encouraging news is that a simple and inexpensive test for hemochromatosis exists. What's more, unlike most other inherited disorders, hemochromatosis can be easily and effectively treated by removing blood from your body to lower the level of iron.

Signs and symptoms

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 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. In addition, early signs and symptoms of hemochromatosis mimic those of many other common conditions, making hemochromatosis difficult to diagnose. They include:

In advanced stages of the disease, you may develop serious conditions such as:

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.

Causes 

Iron plays an essential role in the formation of both hemoglobin — a protein in red blood cells that transports oxygen from your lungs to all the tissues of your body — and 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 (mg) 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 you don't accumulate excess amounts.

But if you have hemochromatosis, 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 (iron overload) is a common problem, it's not always the result of hemochromatosis. 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.

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.

Inheriting just one gene with the C282Y mutation means you're a carrier but aren't likely to develop the disease yourself, although you may absorb more iron than normal. About one in every 10 whites 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 hemochromatosis 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. Some believe it may be as little as 1 percent. Others place the percentage somewhere between 20 percent and 50 percent. It seems likely, however, that most people with hemochromatosis don't develop serious problems, although 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
Other forms of hemochromatosis exist, including:

  • 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; gonadal failure, 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, juvenile hemochromatosis can be fatal. 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 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 neonatal hemochromatosis isn't known.

Risk factors 

Having two copies of a mutated HFE gene is the greatest risk factor for hemochromatosis. Other risk factors include:

  • Family history. If you have a close relative, such as a parent or sibling, with hemochromatosis, you're more likely to develop the disease.

  • Ethnicity. People of Northern European descent — British, Dutch, German, Irish and French — are more prone to hemochromatosis than are people of other ethnic backgrounds. Hemochromatosis is less common in blacks, Hispanics and Asian-Americans.

  • Sex. Men are five times as likely as women are to develop iron overload, and they usually experience symptoms at an earlier age. Because women lose iron with menstruation and pregnancy, they tend to store less of the mineral than men do. After menopause or a hysterectomy, the risk for women increases.

Hemochromatosis > 1 > 2 > 3 > 4

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Last Modified : 03/15/08 01:00 AM