Where is excess iron stored
Both sexes are at risk, but women tend to develop the condition later in life, since regular menstrual periods deplete the body of iron. Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses. Red blood cells contain a protein called haemoglobin, which carries oxygen.
Iron is needed for production of this particular protein, and the iron in food is absorbed via the small intestine. The human body has no method of excreting excess iron, so any excess is normally stored in the liver, with no ill effects. The body typically stores around one gram or less of iron at any given time. However, a person with haemochromatosis absorbs a great deal more iron from their food than is necessary. Iron stores of five grams or more build up inside the body.
Organs such as the liver, heart and pancreas are affected and ultimately damaged. Without treatment, haemochromatosis can cause premature death. Early haemochromatosis has no symptoms. However, in its later stages, haemochromatosis presents a variety of symptoms, and not all people will experience the same signs. Many symptoms are similar to those caused by other illnesses, which partly explains why haemochromatosis may be overlooked as a possible diagnosis. Some of the symptoms include:.
Haemochromatosis is a recessive gene disorder caused by mutations of the haemochromatosis HFE gene. To develop a recessive gene disorder a person needs to inherit the gene mutation from both parents. If a person inherits only one mutated HFE gene, they are known as carriers.
Around one in seven people carry the mutated HFE gene. If two carriers conceive, their child has a 50 per cent chance of inheriting one mutated HFE gene and becoming a carrier, and a one in four chance of inheriting both mutated HFE genes and developing the disease. A simple blood test can establish whether a person is carrying the mutated HFE genes.
A person with haemochromatosis is treated with venesection. This is a procedure similar to blood donation, where around mls of blood is removed until iron in the blood is reduced to normal levels.
Depending on the severity of the condition, this may take around one and a half years of twice-weekly visits. Once iron levels are normal, venesection needs to be performed three or four times every year for life. If haemochromatosis is treated in its earliest stages before severe organ damage has occurred, there is no reduction in life expectancy — other things being equal.
A person with haemochromatosis can better manage their condition by making a few simple lifestyle changes, including:. If you have an immediate family member who has hemochromatosis, ask your doctor about genetic tests that can determine if you have inherited the gene that increases your risk of hemochromatosis.
A normal liver left shows no signs of scarring. In cirrhosis right , scar tissue replaces normal liver tissue.
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. These mutations are passed from parents to children. This type of hemochromatosis is by far the most common type. A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. Genetic testing can reveal whether you have these mutations in your HFE gene.
Iron plays an essential role in several body functions, including helping in the formation of blood. But too much iron is toxic. A hormone called hepcidin, secreted by the liver, normally controls how iron is used and absorbed in the body, as well as how excess iron is stored in various organs.
In hemochromatosis, the normal role of hepcidin is disrupted, causing your body to absorb more iron than it needs. This excess iron is stored in major organs, especially your liver.
Over a period of years, the stored iron can cause severe damage that may lead to organ failure and chronic diseases, such as cirrhosis, diabetes and heart failure. Though many people have faulty genes that cause hemochromatosis, not everyone develops iron overload to a degree that causes tissue and organ damage. Untreated, hereditary hemochromatosis can lead to a number of complications, especially in your joints and in organs where excess iron tends to be stored — your liver, pancreas and heart.
Complications can include:. The serum transferrin saturation test measures the amount of iron bound to transferrin — a protein that carries iron in the blood.
The serum ferritin test measures the amount of iron that the body has stored. Knowing these levels helps a doctor diagnose a person and monitor them during treatment. Doctors need to perform both blood tests, and they may need to repeat them for increased accuracy, as other conditions can also raise ferritin levels.
These are not routine blood tests, and doctors usually only perform them if someone has a parent, child, or sibling with hemochromatosis. However, people may also undergo these tests if they have any of the following signs, symptoms, and conditions:.
In people who consume excessive amounts of alcohol or those who have had many blood transfusions or hepatitis C, the results of these blood tests may suggest iron overload. If a person receives early diagnosis and treatment, they usually have a normal life expectancy. They should have regular blood tests, though, and treatment typically continues for life. Usually, this will need to take place weekly until levels return to normal. When iron levels build up again, the person will need to repeat the treatment.
Doctors may remove 1 pint of blood once or twice each week in the early stages of treatment. After this, they may remove blood every 2—4 months. Phlebotomy cannot reverse cirrhosis, but it can improve symptoms, such as nausea, abdominal pain, and fatigue.
It may also improve heart function and joint pain. Iron chelation therapy involves taking oral or injected medicine to remove excess iron from the body.
Medications can include a drug that binds the excess iron before the body excretes it. Although doctors do not tend to recommend this as a first-line treatment for hemochromatosis, it may be suitable for some people. Other complications can include depression , gallbladder disease, and some cancers.
Iron overload disorders, such as primary hemochromatosis, involve excess levels of iron building up in the body. Without treatment, the condition can cause serious complications, and it can be life threatening. With treatment, people can have a normal life expectancy, especially with early diagnosis and effective management. Anemia is the most common blood disorder.
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