Hereditary Haemochromatosis: Diagnosis and Testing


If you’re worried about your health and are wondering about the importance of iron in your diet, you’ve come to the right place. There’s much more to iron than meets the eye. Iron in food is found in meat, vegetables, and some grains. Meat contains heme iron, which the body can better absorb than plant foods. Non-heme iron is found in plant foods, including spinach, beans, and some enriched grains and breakfast cereals. Plant foods containing non-heme iron are best consumed in combination with meat and vitamin C. Getting enough iron in your diet is key to staying healthy and strong. But there is a catch, as too much iron can be detrimental to our health and it is very important to find the balance. Some people are genetically prone to developing a health condition called haemochromatosis and the only way to test for it is to take a genetic haemochromatosis blood test.

haemochromatosis blood test

The Role Of Iron In Our Body

Iron helps distribute oxygen throughout the body. Haemoglobin is a protein that contains iron, which is responsible for carrying oxygen throughout the body. Haemoglobin is an essential part of the body, representing two-thirds of the body’s iron. Lack of iron can inhibit the production of oxygen-carrying red blood cells, a condition known as iron deficiency anaemia. When this occurs, you’ll feel fatigued and lethargic.

The human body’s ability to recycle and conserve iron is another important factor in its energy balance. A 70 kg adult man has approximately four grams of iron stored in his body. To keep an equilibrium, he needs to consume about one milligram of iron every day. But iron is not easily absorbed by the body. Approximately 10 to 30 per cent of iron is absorbed by the body. This means that a person receiving blood transfusions regularly may be at risk for iron overload.

On the other side, when our body stores too much iron it can also cause severe health problems. In the UK, this is a very common inherited condition causing the human body to absorb too much iron called genetic haemochromatosis. It may result in iron overload, an accumulation of iron in the body that can have a detrimental effect on the heart, pancreas, liver, endocrine glands, and joints if left untreated. To avoid causing harm to your bodily organs or acquiring disorders, it is essential to have a haemochromatosis blood test as soon as feasible.

Haemochromatosis is when the body’s iron levels are abnormally high, resulting in numerous organ failures if actions are not taken. Since the body system is unable to reduce the excessive amount of iron by itself, iron consumption has to be closely controlled. Moreover, due to the skin colouring and concomitant pancreatic condition, haemochromatosis has been named “bronze diabetes.”

blood cells

Signs and Symptoms of Haemochromatosis

Haemochromatosis does not affect everyone in the same way. Some people with high iron levels have no indications, whilst others may exhibit extremely dangerous symptoms. Furthermore, they don’t normally show up until early adulthood, and they might mimic those of other illnesses. The following are indications of haemochromatosis:

-Irregular heartbeat
-Joint discomfort
-Stomach ache
-Sudden weight loss

Whether you have any of the symptoms listed above, contact your physician straight away to see if you are susceptible to a genetic haemochromatosis condition which can be diagnosed with a haemochromatosis blood test.

The haemochromatosis blood test will check:

-The quantity of iron present in your blood – known as your transferrin saturation level
-The quantity of iron stored in your body – known as your serum ferritin level
-Whether your DNA carries a faulty gene associated with the haemochromatosis condition

Other than haemochromatosis, numerous common illnesses may cause a rise in ferritin levels. Hence, it’s critical to recognize haemochromatosis soon as possible before the disease progresses, since early intervention may help avoid more dire consequences.

Ferritin Level

Ferritin is a protein that is used to determine the quantity of iron in the system. Blood ferritin levels increase as the body’s iron reserves increase; nevertheless, ferritin levels do not typically rise until the body’s iron stores have reached a significant level. As a result, when haemochromatosis is in its initial phases, the results of this blood test may be completely normal.

Transferrin Saturation

This is among the most reliable diagnostic procedures for early haemochromatosis detection. Transferrin is an iron-binding protein that transfers iron across tissues; as the body’s iron storage rises, the transferrin saturation increases. A transferrin saturation of more than 45 per cent requires additional investigation.


How Harmful Is Haemochromatosis?

An excessive amount of iron might be harmful and, if left untreated, may result in death. The most common health conditions it is associated with:

-Erectile dysfunction
-Early menopause in women
-Abnormalities in the thyroid, pituitary gland, adrenal gland, and spleen
-Greyer skin

If you see or experience any indications that concern you, schedule a consultation with your general practitioner. Because prevention is better than treatment, being checked through a haemochromatosis blood test as soon as possible is critical.