Haemochromatosis
Haemochromatosis is a genetic condition in which the body absorbs and stores too much iron from the diet. Over time, this excess iron builds up in vital organs such as the liver, heart, and pancreas, leading to potential long-term damage. Without treatment, Haemochromatosis can cause serious complications including liver disease, heart problems, and diabetes.
Often referred to as “iron overload disorder,” Haemochromatosis is one of the most common inherited conditions in people of Northern European descent. Despite this, many individuals remain undiagnosed for years, as early symptoms are vague and easily mistaken for other health issues. Fatigue, joint pain, and abdominal discomfort are among the first signs, but many cases are identified only after organ damage has occurred.
What Is Haemochromatosis?
Haemochromatosis is a disorder of iron metabolism. Under normal conditions, the body regulates iron absorption based on its needs. However, in people with Haemochromatosis, the regulatory mechanism malfunctions, leading to continuous iron absorption from the small intestine—even when the body already has enough.
Excess iron cannot be excreted easily and instead gets stored in tissues and organs. Over time, this leads to oxidative stress, inflammation, and organ damage. If left untreated, iron builds up to toxic levels.
Types of Haemochromatosis
There are several types of the condition, with hereditary haemochromatosis being the most common:
1. Type 1 – Classic Hereditary Haemochromatosis
Caused by mutations in the HFE gene, particularly C282Y and H63D
Most common in individuals of Northern European ancestry
Symptoms usually appear between ages 30 and 50
2. Type 2 – Juvenile Haemochromatosis
Rare and more severe
Symptoms appear in adolescence or early adulthood
Linked to mutations in HJV or HAMP genes
3. Type 3 and 4 – Non-HFE Haemochromatosis
Type 3: Linked to mutations in TFR2 gene
Type 4: Also called ferroportin disease, inherited in a dominant pattern
Non-genetic forms of iron overload can also occur due to repeated blood transfusions, chronic liver disease, or excessive iron supplementation, but these are not classified as true Haemochromatosis.
Who Is at Risk?
Risk factors for developing hereditary Haemochromatosis include:
Having two copies of the defective HFE gene (homozygous)
A family history of the condition
Male gender – men are more likely to develop symptoms at a younger age
Being of Northern European descent – particularly of Celtic ancestry
Women may experience delayed symptom onset due to iron loss during menstruation and pregnancy.
Early Signs and Symptoms
The condition often goes undetected in its early stages. Symptoms may be subtle and non-specific, including:
Chronic fatigue
Joint pain, particularly in the hands
Abdominal discomfort
Loss of libido or erectile dysfunction
Memory fog or difficulty concentrating
As the condition progresses, iron begins to damage organs, leading to more specific signs such as:
Liver enlargement (hepatomegaly)
Diabetes mellitus
Irregular heart rhythms
Skin bronzing or greying (giving rise to the term “bronze diabetes”)
Not everyone with Haemochromatosis develops symptoms. Some people remain asymptomatic despite having high iron levels.
How Common Is It?
Approximately 1 in 200 people of European ancestry have the genetic form of the condition
Around 1 in 10 people carry one defective HFE gene and are considered carriers
It is more prevalent than many doctors realise, but often underdiagnosed
Raising awareness among general practitioners and the public is essential for early detection.
Impact on Health and Lifestyle
If untreated, iron accumulation can lead to:
Cirrhosis of the liver
Liver cancer (hepatocellular carcinoma)
Heart failure
Diabetes due to pancreatic damage
Arthritis from joint tissue damage
Pituitary dysfunction, affecting hormone levels
With early diagnosis and proper management, however, individuals with Haemochromatosis can lead normal, healthy lives.
Conclusion | Haemochromatosis
Haemochromatosis is a common but under-recognised genetic disorder that causes iron to accumulate in the body’s organs. If left untreated, it can lead to severe and potentially life-threatening complications. However, with early identification and ongoing treatment, most people with Haemochromatosis can maintain good health and prevent long-term damage. Understanding the condition and its risk factors is the first step towards effective management.
