Hemochromatosis

Basic Information

Hemochromatosis is a metabolic disease that results in the excessive accumulation of iron in the body tissues and organs. Eventually, this over-absorption of iron causes body toxicity and can turn into severe body damage. Without treatment, hemochromatosis can lead to organ failure. This condition is also called “iron overload disease”. It is the most common genetic disorder in the United States.

Iron is an essential part of a healthy body’s chemical make-up. A body that is functioning well routinely extracts iron from the diet. The most common sources of iron in the diet are red meat and products that are made from iron-enriched grains. Once the body absorbs iron, it converts the iron into hemoglobin, a molecule in the blood that aids in oxygen transportation. While healthy people typically absorb approximately ten percent of all the iron in the food they eat, a person with hemochromatosis absorbs approximately 20 percent. Because the body cannot release such a large amount of iron, it begins to build up in the body tissues and the organs. The organs that are most affected by this accumulation of iron are the pancreas, heart and liver.

As aforementioned, hemochromatosis is a genetic disorder. In fact, it is sometimes called “hereditary hemochromatosis”. This condition is most common among Caucasians of northern European descent. However, other ethnic groups can also be affected. A little under one percent of all United States Caucasians are at risk of developing this disease. At the same time, men are about five times more likely than women to develop hemochromatosis.

Hemochromatosis is the result of defective genes. A gene is the genetic information we receive from our parents that, along with our environment, determines our traits or attributes. A person can inherit hemochromatosis only if they receive a defective gene from each parent. If a person does receive a defective gene from each parent, they will be born with this condition. Because it requires both parents to pass down a defective gene in order to create a child who has the disease, hemochromatosis is considered a “recessive” condition. Alternatively, if a person receives a defective gene from only one parent, they are said to be a carrier. A carrier does not have the disease, but they are at risk of passing it to their child. Once a couple has had a child that has hemochromatosis, there is a 1 in 4 chance that each successive child that they have will have hemochromatosis.

Although hemochromatosis is a genetic disorder, lifestyle choices can affect its development. In other words, a person with a high-iron intake will typically notice the symptoms of this disease long before a person with a low-iron intake. The fact that this disease requires iron accumulation also explains why the age of onset is much earlier in men than in women. This is because monthly menstruation in women causes a significant amount of iron loss, which means that it takes longer for iron to accumulate in women than in men.

Finally, although there is a type of hemochromatosis that affects babies and young children, the symptoms of hereditary hemochromatosis typically do not show up until a man is thirty and a woman is fifty. At the same time, it is possible for a person to develop a non-genetic form of this disease. If a person consumes excessive amounts of iron for years, or if they have experienced multiple blood transfusions, it is possible for a person to become iron-overloaded.

Symptoms

Pain in the joints is the most common symptom of hemochromatosis. However, other symptoms include:

General fatigue
Stomach pain
Irritability
Depression
Yellowish skin color
Loss of body hair
Impotence in men
Loss of fertility and irregular menstruation in women
Heart palpitations or other heart problems
Loss of sex drive

It is possible for a person with this condition to feel only a mild level of symptoms, or to not feel any symptoms at all. The symptoms can also be nonspecific, and resemble other blood disorders or medical problems. That is why it is best for a person to immediately see a doctor and undergo medical evaluations as soon as they simultaneously experience any of these symptoms.

The nonspecificity or absence of symptoms can be a major problem. Oftentimes, people who have this condition do not know that they need medical attention. If hemochromatosis goes for a long time without being treated, it can turn into a serious medical problem. Some of the complications that can arise from untreated hemochromatosis include:

Cirrhosis of the liver
Liver cancer
Diabetes
Heart disease
Joint disease
Chronic abdominal pain
Severe fatigue
Infection
Abnormal heart rhythm
Enlarged spleen or liver
Arthritis
Hepatitis
Impotence
Early menopause
Abnormal pigmentation of the skin; often turning it into gray
Pancreas damage
Thyroid deficiency
Adrenal gland damage
Death

Diagnosis

When a person notices symptoms, they should immediately see a doctor. A doctor will ask questions about the person’s medical history, as well as perform a physical examination. The doctor may also do some blood tests. All of these aspects of the doctor visit may rule out various illnesses. A blood test is the most common way of diagnosing hemochromatosis. In particular, a transferring saturation test (a type of blood test) can determine the level of iron that is in the blood. A serum ferritin test can determine the level of iron in the liver. If either of these tests indicate a high level of iron in the body, the doctor may perform a special test that can tell if the iron-overloaded person has the two defective genes that result in hemochromatosis. A liver biopsy may also be used as a diagnostic evaluation. During this procedure, a small sample of the liver is removed and studied under a microscope. A liver biopsy will indicate if there is an accumulation of iron in the liver. It will also indicate if the liver has been damaged from the iron accumulation. Unfortunately, because the symptoms for hemochromatosis are nonspecific and in some cases nonexistent, this condition often goes undiagnosed and untreated.

Treatment

Hemochromatosis is one of the few genetic disorders that can be effectively treated. The treatment for this condition is safe, inexpensive and easy. The treatment process for hemochromatosis is called “phlebotomy”. During this procedure, blood is removed from the affected person in order to lower the level of iron in the body. It is common for up to a pint of blood to be removed at least once a week for the first year of treatment. During this time, doctors will constantly monitor iron levels in the blood. After the iron levels in the blood have returned to normal, a new phase of treatment begins. During this phase, the patient will give a pint of blood every few months. This phase will last the rest of the person’s life. The earlier that phlebotomy is begun, the higher the chances that the person will not experience serious complications as a result of iron-overload. Thus, it is important to diagnose and treat hemochromatosis early. Early treatment of this condition is crucial for the prevention of organ damage, liver disease, heart disease, arthritis, and diabetes. Unfortunately, if any liver damage has occurred before the commencement of treatment, the risk of liver cancer developing is high, even if the iron levels in the blood are eventually brought down through phlebotomy. Dietary changes are also a part of treatment. A person with hemochromatosis should not take iron supplements. They should avoid raw shellfish and Vitamin C supplements. They should also avoid drinking alcohol as alcohol has been proven to play a part in liver damage. If late symptoms or complications have arisen as a result of this condition, treatment will also consist of taking care of these problems. An affected person may have to see different specialists to deal with the various disorders that result from hemochromatosis. Many of these problems will diminish as the iron count in the body lowers. The exception is arthritis, which does not go away even after the iron count in the body returns to normal.