Oct 19, 2023
If you have hemochromatosis, your body absorbs too much iron from your diet. Excess iron builds up in your organs, especially the heart, pancreas, and liver. Too much iron can cause serious health problems such as diabetes, heart problems, and liver disease.
Although hemochromatosis can take many different forms, the most common type is inherited as a result of a genetic mutation. Significant problems are rare in those who carry the genes. Symptoms usually start to appear in midlife.
Drawing blood from your body is a common procedure used in treatment. Because red blood cells contain a significant amount of the body's iron, this medicine lowers iron levels.
The most frequent cause of hemochromatosis is gene mutations. This gene controls the body's ability to absorb iron from food. Offspring receive the faulty gene from their progenitors. It's known as hereditary hemochromatosis and it is the most common type.
A gene known as HFE is the most frequent cause of hereditary hemochromatosis. Every parent gives birth to one HFE gene. The HFE gene is prone to two common mutations: C282Y and H63D. Genetic testing can determine whether you have these mutations in your HFE gene.
It is possible to inherit two mutant genes and develop hemochromatosis. Your children can inherit the mutant gene. However, not everyone who receives two genes has problems with iron overload associated with hemochromatosis.
If you inherit one defective gene, you are unlikely to develop hemochromatosis. Conversely, it is believed that you are a carrier of the mutation (altered gene), which you can then pass on to your offspring. However, your offspring wouldn't develop the illness unless they also received a different altered gene from the other parent.
Blood formation is one of the many essential biological activities that iron supports. However, excessive amount of iron is bad for your health.
The liver secretes the hormone hepcidin, which controls how the body uses and absorbs iron. It also controls how much extra iron is stored in the organs. In hemochromatosis, hepcidin's function is impaired, which causes the body to absorb more iron than it needs.
This additional iron is primarily stored in the liver. Over time, the accumulation of iron can cause significant damage to organs and perhaps lead to organ failure. It can also lead to chronic illnesses like diabetes, heart failure, and cirrhosis. Numerous people are impacted by gene mutations that cause hemochromatosis. However, not everyone has iron overload to the extent that it damages tissues and organs.
Hereditary hemochromatosis is not the only kind of hemochromatosis. Other types include:
For some people, hemochromatosis may never cause symptoms. Early warning signs and symptoms of other prevalent disorders often co-occur.
Among the possible symptoms are:
Hemochromatosis diagnosis may be difficult. Early symptoms, such as stiff joints and fatigue, can be attributed to conditions other than hemochromatosis.
Many people with the condition have raised blood iron levels but no other symptoms. Abnormal results from blood tests can be used to detect hemochromatosis after testing for other causes. It may also be discovered when screening family members of those who have received a diagnosis.
To detect iron excess, two tests are necessary:
It is recommended that you get these iron-related blood tests after you have been fasting. One or more of these tests may reveal elevations under different circumstances. You may need to retake the exams to obtain the most accurate results.
Further testing to verify the diagnosis and look for any underlying problems may be advised by your doctor:
Hemochromatosis can be safely and effectively treated by medical specialists by regular blood removal from the body. This is similar to donating blood. The process is known as phlebotomy.
The main goal of phlebotomy is to decrease your iron levels. The amount and frequency of blood draws will depend on your age, overall health, and level of iron excess.
The initial course of therapy: A pint (470 milliliters) of blood may be taken at first, once or twice a week, at a hospital or your doctor's office. You lie back on a chair and a needle is inserted into a vein in your arm. After leaving the needle, the blood flows into a tube that is attached to a blood bag.
Maintenance treatment schedule: The frequency of blood draws can be reduced to once every two to three months after your iron levels begin to drop. Some people can keep their iron levels regular even when they don't donate blood. Some might need to have blood drawn every month. The schedule takes into account how quickly iron builds up in your body.
Skin discoloration, gastrointestinal trouble, and sleepiness are among the symptoms of hemochromatosis that treatment can alleviate. Its help can prevent serious repercussions such as diabetes, heart disease, and liver illness. If you already have one of these conditions, phlebotomy may be able to slow the progression of your condition.
Phlebotomy can assist, but it cannot reverse the progression of cirrhosis or relieve joint discomfort.
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