Hemochromatosis is a condition when there is too much iron in the body . If left untreated, iron will accumulate in the body's organs and can cause serious conditions , such as cirrhosis of the liver and heart failure .

Iron is an important mineral for the body that can be obtained from food . Iron has many functions for the body, one of which is to produce hemoglobin, a substance in red blood cells that functions to bind and distribute oxygen throughout the body.

Under normal conditions, the intestine will absorb iron in normal amounts. However, in hemochromatosis, iron from food is absorbed in excess and cannot be excreted from the body.

This condition causes iron to accumulate in the liver, heart, pancreas, and joints. If the accumulation of iron occurs continuously, these organs will be damaged.

Causes of Hemochromatosis

The main cause of hemochromatosis is a change or mutation in the HFE gene, which is a gene that regulates iron absorption by the body. This gene mutation can be inherited from both parents, even if the parents do not show symptoms of hemochromatosis.

Apart from being caused by mutations in the HFE gene, hemochromatosis can also be caused by autoimmune diseases that develop during fetal development. This condition causes a buildup of iron in the liver and can cause premature death in newborns.

Apart from heredity and autoimmune diseases, hemochromatosis can also occur due to several other conditions, such as:

  • Long-term blood transfusions, for example in people with thalassemia
  • Chronic kidney failure which is already on dialysis stage
  • Chronic liver disease, eg hepatitis C or alcohol-related liver disease

Risk factors for hemochromatosis

There are a number of factors that can increase the risk of hemochromatosis, namely:

  • Male gender
  • Over 60 years old
  • Have a family history of hemochromatosis
  • Have a family history of certain diseases or conditions, such as diabetes, arthritis, and heart attacks
  • Excessive consumption of alcoholic beverages

Symptoms Hemo k romatosis

Hemochromatosis often causes no symptoms. When symptoms appear, they generally occur in the age range of 30–50 years. In a minority of cases, sufferers of this condition experience symptoms at the age of 15–30 years.

In women, excess iron in the body can be wasted through menstrual blood, so the symptoms of this disease usually appear after menopause .

In general, the symptoms of hemochromatosis are:

  • Weak
  • Joint pain
  • Stomach ache
  • Decreased sex drive
  • The skin becomes gray
  • Hard to remember
  • Weight loss
  • dazed
  • Heart rhythm disturbances

The symptoms above can get worse if the patient consumes vitamin C or food and drinks that contain these substances. This is because vitamin C can increase the absorption of iron.

When to go to the doctor

Check with your doctor if you experience the symptoms mentioned above, especially if you have family members who suffer from hemochromatosis.

Even if you don't have symptoms, you are also advised to do a genetic examination if you have a family history of hemochromatosis. This examination can show how much the risk of hemochromatosis can be passed on to children.

Diagnosis of hemochromatosis

To diagnose hemochromatosis, the doctor will conduct questions and answers regarding the symptoms experienced, family and patient medical history, and medications consumed.

After that, the doctor will do a physical examination, especially the abdominal area, to detect swelling in the liver and spleen .

If the patient is suspected of having hemochromatosis, the doctor will do a blood test to determine the level of iron in the blood. If the results are abnormal, the doctor will do a genetic test to check for mutations in the HFE gene.

In addition to the above examinations, the doctor can also carry out several follow-up examinations to see the impact of hemochromatosis on certain organs and see the possibility of other diseases. Some of these checks are:

  • Liver function tests , to detect liver damage
  • MRI, to see the condition of the liver more clearly
  • Liver biopsy, to determine the amount of iron in the liver by taking a tissue sample of the organ

Treatment of Hemo k romatosis

Hemochromatosis treatment aims to restore and maintain normal iron levels in the body, prevent organ damage, and prevent complications due to iron accumulation.

Some of the actions doctors can take to treat hemochromatosis are:

Blood disposal

The process of removing blood or phlebotomy is done like a blood donation. How often and how much blood is removed depends on the patient's age and the severity of the hemochromatosis.

Some patients initially undergo this process 1–2 times a week. After the iron level in the blood returns to normal, blood disposal is done every 2 or 3 months.

To help the healing process, patients are prohibited from consuming foods or drinks that can increase iron in the body, such as vitamin C, iron supplements, alcoholic beverages, and raw fish and shellfish.

Administration of drugs

Doctors can also give medicines in pill or injection form, to help bind and get rid of excess iron in the body through urine or feces. These drugs are called chelation ( chelation ), an example is deferiprone .

Drug administration is done if the patient has a condition that makes him unable to undergo blood disposal, for example because he suffers from thalassemia or heart disease.

Hemochromatosis complications

If left untreated, hemochromatosis can cause iron to build up in several organs of the body. As a result, sufferers can experience the following complications:

  • Problems with the reproductive system, such as impotence in men and menstrual disorders in women
  • Liver damage, such as cirrhosis
  • Damage to the pancreas, causing diabetes
  • Heart problems, such as arrhythmias and heart failure
  • Arthritis

Prevention of Hemochromatosis

Hemochromatosis is difficult to prevent. However, in people who are at high risk of developing hemochromatosis, the risk of developing this condition can be reduced by undergoing regular doctor checks so that iron levels are always controlled.

In patients with certain diseases that require long-term blood transfusions , such as thalassemia , blood tests need to be done regularly to prevent hemochromatosis.

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