Haemochromatosis (Iron Overload): Types, Symptoms, Causes, Diagnosis And Treatment

Our body requires a certain amount of various nutrients everyday for healthy functioning. Minerals like iron, calcium, magnesium or potassium are called micronutrients as they are used by our body in very minimal quantities. However, among all these, iron is known to be the most important mineral as it is a major component of our blood. Including iron-rich foods is indeed a very important part of our diet. It is essential in building new blood cells and also maintaining muscle strength.

The most important function of iron in our body is to help the red blood cells transport oxygen to various parts of the body. The daily recommended iron intake needed by our body to support all these functions is almost 19.5 to 20 mg/day. Though this amount of iron can be procured through the consumption of iron-rich foods or supplements, it is important not to go overboard.

The iron or any other nutrient in our food is usually absorbed by our body in the right quantities when it passes through the intestines. Sometimes, this function of the intestines is impaired by a condition called haemochromatosis.

What Is Haemochromatosis?

Haemochromatosis, also known as iron overload, is the condition where the intestines absorb too much iron from our food. In such cases, the body stores the excess iron in the joints and organs like the pancreas, liver and heart. This not only impairs the function of these organs but may eventually lead to organ failure as well ^[1] . Failure to remove excess iron from these organs on time may even result in fatality.

Types Of Haemochromatosis

The two types of haemochromatosis are as follows:

Primary Haemochromatosis

This type of haemochromatosis is a hereditary condition. The genes that are responsible for the iron overload should be present in both the father and the mother to put you on a higher risk of genetically carrying the disease yourself. If the condition runs in only one side of your family, you are said to have only 30% risk of developing the condition later on in your life. Also, if you inherit a gene from either of the parents, you may just be a carrier of the condition but may never develop it at all in your lifetime.

Surprisingly, recent studies have concluded that the haemochromatosis is more common in Caucasians as almost 1 million of them have a gene responsible for the condition ^[2] . While men develop the condition in their early 20s or 30s, women usually do not notice the symptoms until menopause.

Secondary Haemochromatosis

People can still develop haemochromatosis even if they do not carry a mutated gene for it. Secondary haemochromatosis can occur if the iron build-up in the body is caused as a side effect to other medical conditions ^[3] such as

• Anaemia
• Chronic liver disease
• Kidney dialysis
• Frequent blood transfusions

Causes Of Haemochromatosis

The cause of haemochromatosis is largely based on its type.

In cases of primary haemochromatosis, the main cause is the presence of a mutated gene in your gene pool. The gene responsible for the condition is referred to as the HFE gene or the haemochromatosis gene. This gene is mainly responsible for the amount of iron absorption from the food. Two subtypes of primary haemochromatosis are juvenile and neonatal.

• Juvenile haemochromatosis affects people between the ages of 15 to 30. Moreover, this condition is caused by a mutation in a different gene called the hemojuvelin gene.
• Neonatal haemochromatosis affects newborns and causes severe build-up of iron, which can sometimes lead to death.

Secondary haemochromatosis, however, has slightly different causes. Haemochromatosis can often occur in individuals as a side effect of other medical conditions which are mostly treated through blood or other kind of transfusions, such as thalassemia, sickle cell anaemia, chronic liver disease or kidney dialysis. All this can lead to the natural heme structure of the red blood cells present in the body to fight off the newly introduced ones instead of absorbing the iron as its own ^[5] . This may eventually lead to the iron being accumulated in the joints and other organs. This condition is also known as transfusion-induced haemochromatosis.

Symptoms Of Haemochromatosis

The symptoms of haemochromatosis usually vary from person to person. However, the most common symptom of iron overload is the iron fist. A definite pain in the knuckles of your pointer and middle finger is a sure shot symptom of haemochromatosis. Other common symptoms include pain in the joints and excessive fatigue.

There are many cases of the condition going unnoticed for a long time until other complications start to show up. Certain tell-tale signs of the same are as follows ^[4] :

- Excess and sudden weight loss
- Pain in the abdomen area
- Loss of sexual drive
- Abnormal or pale skin colour
- Heart fluttering
- Memory loss
- Liver problems
- Diabetes

Diagnosis Of Haemochromatosis

It is not easy to diagnose haemochromatosis because many of its symptoms are quite common in other conditions as well. However, if you have noticed many of the symptoms above including the iron fist or have a history of the condition in your family, you may visit a doctor and explain your symptoms to them in detail.

After an initial examination, the doctor will run a few tests in order to reach a proper conclusion. Here are a few tests commonly run by doctors in order to diagnose haemochromatosis ^[6] :

• Blood test - This is the first and foremost test done to determine the exact amount of iron in your blood. This test is used to ascertain the levels of serum iron, serum ferritin levels and saturation of iron in your blood. If the test reads above 45%, it is definitely a case of haemochromatosis.
• Genetic testing - This is important to determine if the haemochromatosis is primary or secondary.
• Liver biopsy - The high levels of iron in your body can easily be determined by examining a piece of liver under the microscope to study for any damages. The liver is the primary storage area for excess iron. The amount of liver damage corresponds to the level of iron present in it.
• MRI scan - It may be wise to study the damage of the excess iron in other organs of the body as well in order to determine the extremity of the condition and begin treatment immediately.

If left untreated, the excess iron can cause irreversible and permanent damages to other parts of the body that may even lead to multiple organ failure.

Treatment Of Haemochromatosis

It is important to diagnose haemochromatosis on time before it damages the other important organs of the body. Though the condition is not completely treatable, it gets better and better by effective management.

The most common treatment of haemochromatosis is phlebotomy, a process where some of your blood is withdrawn ^[7] . It would feel a lot like you donating blood. This automatically lowers the blood levels and iron in the body. However, they are also replaced quite easily. Therefore, you will have to undergo phlebotomy until the iron levels in your blood are normal.

During the initial phase of the treatment, you may have your blood withdrawn very frequently like 2-3 times in the week. If the iron levels manage to stay under control, the frequency of phlebotomy is reduced. However, it is important to get your iron levels tested in intervals in order to keep the iron levels under control ^[8] .

For some people who abhor the idea of blood being drawn from their body, there are certain medications available which will help expel the excess iron in your body through urine. However, these medications are very expensive and have their own side effects. It is important to communicate with your doctor regarding the best possible treatment available to you.

Managing the condition while getting treatment is equally important. There may be a lot of dietary restrictions for you. Avoiding iron-fortified foods is the foremost. You will also have to cut back on your vitamin C supplements if you do take them as vitamin C boosts iron absorption in the body ^[9] . You need to keep an eye for any of the symptoms that you notice, especially if the condition runs in your family. Though haemochromatosis cannot be cured, regular blood tests will help you monitor the situation.