Hemochromatosis: The story we don't know but should know

We have all heard since childhood how good iron is for the body, and that if iron is lacking, we will develop diseases. We always talk about "iron deficiency", that is, anemia. But have you ever thought that having too much iron in the body can also be a serious problem? Yes, it is true. This condition is what we call "hemochromatosis" or simply "iron overload" in medicine. Today we are talking about this condition that many people do not know about, but everyone should be aware of.

What exactly is Hemochromatosis?

Simply put, this is when your body absorbs more iron from the food you eat than it needs. Normally, our bodies are very good at taking in only the amount of iron it needs and rejecting the rest. But in someone with hemochromatosis, there is something wrong with this control system.

So, since there is no way to remove this extra iron from the body, the body starts storing it in various organs. Just like we store unwanted items in a corner of our house. Over time, this iron accumulates in major organs like the heart, liver, and pancreas, causing damage to those organs. If left untreated, this can be life-threatening. But the best part is that this is a completely treatable and controllable condition.

What are the symptoms of this condition? How is it diagnosed?

The biggest problem with this is that it takes a long time for symptoms to appear. Although this condition is usually congenital, it takes years for the body to accumulate harmful levels of iron. Therefore, many people start to experience symptoms after the age of 40 or 50. Sometimes these symptoms are ignored, thinking that they are normal conditions that occur with aging.

Let's see what the main symptoms of this condition are in the table below.

Why is this happening? What are the reasons?

There are two main categories of causes of hemochromatosis.

1. Hereditary causes (Hereditary Hemochromatosis)

This is the most common type. Simply put, it is a genetic condition that you inherit from your parents . There is a gene that controls iron in our body. It is called the `(HFE gene)`. If there is a mutation (change) in this gene, the body cannot control iron.

Imagine, for this condition to develop, you need to inherit two copies of this defective gene from both your mother and your father. If you inherit only one copy from both, you are only a carrier and usually do not develop the disease. So even if your parents have this gene, they may not have the disease. The most common genetic mutations are `(C282Y)` and `(H63D)`.

In addition, there is a rare form called "Juvenile Hemochromatosis" that appears at a young age, that is, between the ages of 15-30. It is caused by mutations in the genes `(HJV)` or `(HAMP)`. In this, iron accumulation occurs very rapidly.

2. Caused by other diseases or treatments (Secondary Hemochromatosis)

This occurs when iron levels in the body increase due to another medical condition or medical treatment.

• Frequent Blood Transfusions: Patients with anemia such as thalassemia require continuous blood transfusions. This condition can occur as the iron in the blood accumulates in the body.
• Chronic Liver Disease: If the liver is severely damaged, it cannot metabolize iron properly.
• Excessive alcohol consumption: Alcohol not only damages the liver, but also increases the body's absorption of iron.

What are the complications of iron overload?

As we mentioned earlier, iron is toxic to the body if it exceeds the required amount. Since there is no way to remove this excess iron, the body stores it in the tissues. The damage that this can cause is not insignificant.

The liver, heart, and pancreas are particularly affected. If left untreated, the following serious complications can occur:

• Chronic liver failure: Cirrhosis is caused by iron buildup in the liver, which can eventually lead to complete liver failure.
• Congestive heart failure: Iron deposits in the heart muscle can cause the heart to weaken and become unable to pump enough blood to the body.
• Diabetes: Iron deposits in the pancreas damage the insulin-producing cells, which can lead to diabetes (Type 3c).

In addition, it can also affect the functioning of the thyroid gland, pituitary gland, adrenals, and reproductive system.

How does a doctor find this?

If you have any of the above symptoms or if someone in your family has this condition, it is important to see your doctor. The doctor will first ask you a few questions.

• Have your parents or anyone in your family had liver disease or iron overload?
• Do you take iron supplements or vitamin C (which increases iron absorption)?
• How much alcohol do you drink?

Then, a physical examination is performed and, if necessary, the following tests are performed.

What are the best treatments?

The main goal of treating hemochromatosis is to reduce the amount of excess iron in the body and maintain it at a normal level. This can prevent further damage to organs.

How is life with this situation?

This may sound scary to you. But the truth is, if diagnosed early and treated properly, hemochromatosis is a very manageable condition . You can live a completely normal, healthy life. In some cases, some of the organ damage can be reversed once treatment begins.

The problem is that if you go untreated for too long, the damage to your organs may not be reversible. That's why it's important to see a doctor immediately if you have any concerns.