Hemochromatosis (18 mutations)

This test looks for a panel of 18 genetic variants across three genes associated with hereditary haemochromatosis, an inherited condition in which the body absorbs and stores too much iron. Over time, this excess iron can build up in organs such as the liver, heart, and pancreas and cause damage if left untreated. This test uses genetic analysis to identify variants in the HFE, TFR2, and FPN1 (ferroportin) genes, giving a broad assessment of the inherited causes of iron overload.

What it can help assess

• Diagnosing or investigating hereditary haemochromatosis, particularly in people with raised iron levels or symptoms suggestive of iron overload
• Carrier status: identifying whether you carry a variant, which is relevant for family planning
• Understanding family risk: particularly relevant if you have a family history of haemochromatosis or iron overload
• Explaining raised iron results: helping to determine whether high iron or ferritin levels have an inherited genetic cause

Understanding the results

Hereditary haemochromatosis is usually inherited in a recessive pattern, meaning a person typically needs to inherit two faulty copies of a gene, one from each parent, to be at risk of iron overload. The most common and best understood cause is the C282Y variant in the HFE gene. This test can identify:

• No variants detected: none of the 18 variants on the panel were found
• One variant (carrier): you carry one variant. Carriers usually do not develop iron overload but can pass the variant on to their children
• Two variants: depending on which variants are involved, this can indicate an increased risk of iron overload, which would be assessed alongside your iron levels

An important note on interpretation

Carrying variants indicates a genetic predisposition, not a certainty that iron overload will develop. Many people with genetic changes never develop significant iron overload, and the condition also depends on other factors. Importantly, genetic results are interpreted alongside your actual iron levels, such as ferritin and transferrin saturation, which show whether iron is genuinely accumulating. This test covers 18 variants but not every possible one, so a negative result greatly reduces, but does not completely rule out, an inherited cause. Any significant result should be discussed with your GP or a specialist, who may recommend genetic counselling.

Why it matters

Hereditary haemochromatosis is one of the more common inherited conditions, and the good news is that it is very treatable when identified early, usually by simply removing blood periodically to lower iron levels. Left undetected, iron overload can cause serious and lasting organ damage, so identifying an inherited cause allows for monitoring and treatment that can prevent complications and protect long-term health.

• HFE gene (V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q283P)
• TFR2 gene (E60X, M172K, Y250X, AVAQ594-597del)
• FPN1 / ferroportin gene (N144H, V162del)

No special preparation required.

For blood tests, we recommend drinking plenty of water beforehand to ensure smooth sample collection. If you are taking any regular medication, continue to do so unless advised otherwise by your doctor.