What is hereditary haemochromatosis?

Haemochromatosis is an inherited disorder that affects the body's iron metabolism processes, leading to an excessive accumulation of iron in the tissues and organs such as the liver, heart, and pancreas. It is also known as iron overload. This accumulation can cause organ damage and serious health problems, even leading to premature death.

Iron is introduced into the human body through food and is a fundamental element for health. During digestion, mechanisms are put in place to ensure that the body takes in the amount it needs. There is no system to expel excess iron, so the only way the body can regulate the amount of iron is by not absorbing it.

When someone has haemochromatosis, this regulation process does not work correctly, and therefore iron begins to accumulate. It is a genetic disorder, meaning that both parents must carry the HFE gene for the disorder to develop, while someone who only has one copy of the gene is called a carrier.

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Haemochromatosis can be classified into 4 types:

Type 1 is the most common, and together with type 4, they are the variants that develop symptoms in adulthood, approximately between the ages of 40 and 60.

Type 2 is known as juvenile haemochromatosis, and symptoms begin to develop in childhood.

Type 3 is a middle ground between type 1 and type 2, and symptoms present themselves before the age of 30.

What are the symptoms of haemochromatosis?

The process of iron accumulation in various tissues and organs occurs gradually, and in many cases, symptoms of this disorder do not appear until around 30 or 40 years of age.

Among the most common symptoms we can find:

• fatigue and tiredness
• joint pain
• decreased libido and/or impotence
• stomach pain
• changes in skin pigmentation
• diabetes

It is therefore clear how important early diagnosis is to improve the outlook and quality of life for patients. Taking a test to determine if you have the possibility of developing the disorder is the first step in prevention, especially if there are cases in the family, both among direct ascendants and among siblings.

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Prevalence of haemochromatosis in Ireland

According to the Irish Haemochromatosis Association, one in five people in Ireland carry the gene responsible for haemochromatosis, and one in83 people are genetically predisposed to developing symptoms of iron overload, having inherited both mutated genes. The World Haemochromatosis Awareness Week takes place from June the 1st to 7th every year and raises vital awareness of the disorder.

How can I know if I will develop symptoms of haemochromatosis?

A simple blood test, called an iron panel blood test, can reveal abnormal values that may suggest a case of haemochromatosis. These values should be interpreted and confirmed by a doctor.

A genetic test can determine with certainty if we have the potential to develop the disorder or if we are only carriers of the genetic mutation that causes excessive iron absorption. A genetic test, if done in time, allows us to act preventively before the onset of symptoms and before damage is created to the organs and health.

Get our genetic test and take the first steps in empowering your health journey.

We encourage everyone to take advantage of this opportunity and prioritise their health by getting tested and taking steps towards prevention. And remember as the famous Dutch philosopher, Desiderius Erasmus said: “prevention is always better than cure”!

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