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Hemochromatosis: Causes, Symptoms, Diagnosis and Treatment

Oct 19, 2023

Hemochromatosis: Causes, Symptoms, Diagnosis and Treatment

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.

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Causes Of Hemochromatosis

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.

Gene mutations causing hemochromatosis

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.

Hemochromatosis's Effects on Your Organs

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:

  • Juvenile hemochromatosis: This causes the same problems in young people as adult hereditary hemochromatosis. Iron buildup, however, begins much earlier, usually exhibiting symptoms between the ages of 15 and 30. This disease is caused by changes in the hemojuvelin or hepcidin genes.
  • Neonatal cases of hemochromatosis: In this dangerous disorder, iron builds up in the liver of the developing fetus rapidly. It's thought to be an autoimmune disease, which means the body is attacking itself.
  • Secondary hemochromatosis: This particular form of the disease, known as "iron overload," is not hereditary. People with certain types of anemia or liver illness might need to get blood transfusions frequently. This may lead to an accumulation of excess iron.

Also Read: Von Willebrand disease: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and Complications

Symptoms Of Hemochromatosis

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:

  • Joint pains.
  • Abdominal pain.
  • Tiredness.
  • Weakness.
  • Diabetes.
  • Decrease in desire for sex.
  • Impotence.
  • Cardiac failure.
  • Disease of the liver.
  • Bronze or grey skin tone.
  • Confusion

Diagnosis Of Hemochromatosis

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:

  • Serum transferrin saturation. This test measures the amount of iron bound to the transferrin protein, which distributes iron throughout the blood. Transferrin saturation values of more than 45% are considered extremely high.
  • Serum ferritin levels. This test determines the amount of iron stored in reserve within your liver. If the results of your serum transferrin saturation test are greater than normal, your doctor may assess your serum ferritin.

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.

Also Read: Esophageal Cancer: Causes, Symptoms, Types, Risk Factors, Diagnosis, Treatment, Prevention and Complications

Other Investigation

Further testing to verify the diagnosis and look for any underlying problems may be advised by your doctor:

  • Evaluating liver function: The results of these tests can be used to assess liver damage.
  • MRI: An MRI is a simple and non-invasive way to determine the amount of iron excess in your liver.
  • Examining any gene changes: It is recommended that you get a DNA test done to look for changes in the HFE gene if you have high blood iron levels. Discuss the benefits and drawbacks of hemochromatosis genetic testing with your doctor or a genetic counselor.
  • Taking a sample of liver tissue out to examine it: If your doctor suspects you have liver disease, they may ask for a liver biopsy. During a liver biopsy, a small needle is used to remove tissue from your liver. A lab receives the sample to analyze its iron content. The lab also looks for indicators of liver deterioration, especially cirrhosis or scarring. There is a chance of bleeding, bruising, or infections after a biopsy.
  • Genetic testing is recommended for all parents, siblings, and children of individuals diagnosed with hemochromatosis. It is not required to test the child in situations where one parent has a genetic mutation.

Also read: Hereditary Spherocytosis: Causes, Symptoms, Diagnosis, Treatment and Complications

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Treatment Of Hemochromatosis

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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