Haemochromatosis

What is haemochromatosis?

Haemochromatosis is a genetic condition where the body absorbs excessive iron from food. Unlike normal metabolism, which regulates iron intake, this defect leads to progressive iron accumulation in the organs.

The most common form is caused by the C282Y mutation in the HFE gene, primarily affecting 1 in 200 people of Northern European descent. Iron overload follows a predictable path:

• Early stage: High ferritin and transferrin saturation; no damage; fully reversible.

• Progressive iron overload: Excess iron accumulates primarily in the liver and may subsequently affect other organs, including the pancreas, heart, and joints.

• Advanced stage: Potential for cirrhosis, diabetes, and heart failure; some damage is irreversible.

Early detection is critical: individuals treated before organ damage occurs have a normal life expectancy, whereas those diagnosed after cirrhosis face a significantly poorer prognosis.

Haemochromatosis symptoms develop gradually over decades and are frequently attributed to other conditions. Common signs include:

• Persistent fatigue and low energy, one of the earliest and most common symptoms

• Joint pain and swelling, particularly in the knuckles (second and third metacarpophalangeal joints), a highly characteristic pattern

• Abdominal discomfort or pain from liver enlargement

• Skin bronzing, a distinctive bronze or grey discolouration from iron and melanin deposition

• Reduced libido and sexual dysfunction from iron-related pituitary and gonadal damage

• Irregular heartbeat or heart failure from cardiac iron deposition

• Symptoms of diabetes, such as thirst, frequent urination, fatigue, from pancreatic damage

• Liver enlargement or tenderness

Many people are entirely asymptomatic until iron stores are very high, making blood testing the only reliable early detection strategy.

Haemochromatosis results from genetic mutations that disrupt the body's iron absorption regulation. Contributing factors include:

• HFE gene mutations: C282Y homozygosity is the primary cause. H63D variants typically cause milder disease.

• Family history: First-degree relatives carry elevated risk. Siblings of C282Y homozygotes have a 1 in 4 chance of the same genotype.

• Sex: Men develop overload earlier; menstruation naturally protects premenopausal women, often masking the condition until menopause.

• Dietary factors: High intake of red meat, alcohol, or vitamin C can accelerate iron buildup in susceptible individuals.

Haemochromatosis is primarily detected through blood tests measuring iron stores and transport markers, supported by abdominal MRI for assessing organ iron deposition and liver damage.

Blood tests: Elfcare's panel includes the key iron overload markers:

• Ferritin: Reflects total body iron stores. Levels above 200 µg/L in women or 300 µg/L in men warrant further investigation.

• Transferrin saturation: The most sensitive early marker. Levels exceeding 45% are a primary screening signal, often rising before ferritin.

• Serum iron: Measures circulating iron; elevated during active overload.

• TIBC: Typically low, as iron-carrying proteins become fully saturated.

• Liver enzymes (ALT, AST, GGT): Elevated markers indicate liver cell damage from iron deposition.

• HbA1c and glucose: Monitored because iron buildup in the pancreas can lead to diabetes.

• Testosterone: Iron accumulation in the pituitary can cause low levels, a key indicator for men.

Abdominal MRI: Elfcare's full-body MRI directly images the liver to identify iron deposition and structural changes like fibrosis or cirrhosis. As the most accurate non-invasive method for quantifying liver iron content, it provides critical structural and quantitative insights that blood tests alone cannot offer.

Why early detection matters

Haemochromatosis treated before organ damage occurs, through regular therapeutic phlebotomy (bloodletting), results in a completely normal life expectancy. The same condition detected after cirrhosis, diabetes, or cardiomyopathy has developed carries irreversible consequences. The tragedy of haemochromatosis is that it is one of the most preventable causes of liver cirrhosis, heart failure, and diabetes, yet it is frequently diagnosed only after decades of silent accumulation. A single blood test measuring transferrin saturation and ferritin can identify it at the earliest, fully reversible stage.

How Elfcare can help

Elfcare's blood panel includes transferrin saturation, ferritin, serum iron, TIBC, liver enzymes, HbA1c, and testosterone, covering both the primary detection markers for haemochromatosis and the downstream organ consequences of iron overload. Transferrin saturation is the earliest detectable signal, often elevated years before symptoms or organ damage develop.

Our abdominal MRI directly images the liver, quantifying hepatic iron content and identifying structural damage, providing a complete picture of disease stage that blood tests alone cannot give.

If our blood tests or MRI identify findings consistent with iron overload, we take care of further diagnostics or refer you to the appropriate specialist.