Clinical Overview: The HFE Gene Analysis

The HFE gene (Haemochromatosis) test is a targeted molecular analysis designed to detect the most common mutations associated with Type 1 Hereditary Haemochromatosis. At London Blood Tests, our laboratory focuses specifically on the C282Y and H63D variants, which are responsible for the vast majority of clinical cases in the UK population. This genetic investigation determines whether an individual has inherited the genetic predisposition to absorb excessive amounts of iron from their diet.

Our clinic ensures that these sensitive results are handled with the highest degree of clinical accuracy. The test requires a simple blood sample, from which DNA is extracted to pinpoint the exact genotype of the client. Identifying these mutations early is essential, as Hereditary Haemochromatosis is a manageable condition but can lead to severe systemic complications if left undiagnosed for decades.

Diagnostic Necessity: Why This Test is Essential

Testing for the HFE gene (Haemochromatosis) is essential for individuals with high iron markers or a family history of the condition. Unlike general iron studies, which measure current levels in the blood, the genetic test confirms the underlying cause of iron accumulation. Because iron has no natural way of leaving the human body other than through blood loss, excessive absorption leads to iron deposits in vital organs such as the liver, heart, and pancreas.

Many clients at London Blood Tests seek this screen after routine biochemistry reveals an elevated transferrin saturation or high ferritin levels. Early detection through genetic screening allows for proactive management, typically through therapeutic venesection (blood removal), which can effectively return iron stores to a safe range and prevent irreversible damage like cirrhosis or heart failure.

Symptoms that may indicate a need for testing include:

• Persistent, unexplained fatigue and lethargy
• Joint pain, particularly in the knuckles and fingers (often termed "iron fist")
• Unexplained abdominal pain or liver tenderness
• Skin bronzing or permanent tanning unrelated to sun exposure
• Early-onset diabetes or heart rhythm irregularities
• Loss of libido or early menopause in women

Key Clinical Benefits of Testing

• Definitive Genetic Confirmation: Provides an absolute answer regarding the hereditary cause of high iron levels.
• Family Risk Assessment: Identifies whether siblings or children may also be at risk of inheriting the condition.
• Prevention of Organ Damage: Allows for early intervention before iron causes permanent scarring of the liver or heart.
• Targeted Clinical Management: Guides the frequency and necessity of therapeutic venesection treatments.
• Rule Out Secondary Causes: Distinguishes between genetic haemochromatosis and other causes of high ferritin, such as inflammation.
• Fast Laboratory Turnaround: Results are typically delivered within 3 working days, allowing for rapid clinical planning.
• Nationwide Access: Available at London Blood Tests clinics across the UK or via our mobile phlebotomy service.
• Expert Clinical Oversight: Samples are processed in accredited facilities ensuring the highest standards of genetic accuracy.

Simple Step-by-Step Testing Process

At London Blood Tests, we offer two kinds of testing to suit your schedule and preference. You can choose your nearest UK clinic from our network of over 185 locations; you simply come into the clinic where a doctor or clinician draws your blood, and you then wait for your results. This in-clinic service carries an extra fee of £35.

Alternatively, you can pay £60 extra for our premium mobile service. In this case, a professional phlebotomist comes to your location—be it your home or a hotel—to perform the draw. This allows you to stay in the comfort of your own environment without the need to travel. Both of these services are available UK-wide, ensuring expert care wherever you are located.

Understanding Your Laboratory Findings

Your HFE gene (Haemochromatosis) results are reported based on the specific mutations detected on each of your two HFE alleles.

Normal Genotype (Wild Type)

This result means that neither the C282Y nor the H63D mutation was detected. Your HFE gene is functioning normally, and any elevated iron levels found in other tests are likely due to non-genetic factors such as diet, supplements, or other medical conditions.

• UK Standard Result: Negative for C282Y and H63D mutations.

Heterozygous (Carrier Status)

A heterozygous result means you have inherited one mutated copy of the gene (either C282Y or H63D) and one normal copy. While carriers generally do not develop full-blown iron overload, they can pass the mutation to their children. In some cases, "compound heterozygotes" (one C282Y and one H63D) may develop mild to moderate iron overload.

• UK Standard Result: Heterozygous (1 copy detected); clinical monitoring of ferritin is advised.

Homozygous (High Risk)

A homozygous result (typically C282Y/C282Y) confirms that you have inherited two copies of the mutated gene. This genotype is the primary cause of Hereditary Haemochromatosis. Individuals with this result are at high risk of progressive iron accumulation and require clinical management of their iron stores.

• UK Standard Result: Homozygous (2 copies detected); clinical intervention usually required.