Haemochromatosis symptoms in the UK: the blood tests that catch iron overload early

1. What are the haemochromatosis symptoms people dismiss?

The ordinary ones. That is the whole problem.

Haemochromatosis is an inherited condition where the gut absorbs more iron than the body can use. The body has no way to get rid of the extra, so it is stored in the liver, joints, pancreas and heart. The NHS says symptoms usually begin between the ages of 30 and 60. Its list of early signs reads like a description of a busy life.

• Feeling very tired all the time. The most common first symptom, and the one most often blamed on work or sleep.
• Joint pain, especially in the fingers. The NHS singles out the fingers. Iron settles in the knuckle joints of the index and middle fingers.
• Brain fog, low mood or anxiety. Poor concentration and mood swings are on the NHS list, and nobody connects them to iron.
• Erectile dysfunction or a lost sex drive. Erectile dysfunction is on the NHS early list and a lost sex drive on the later one. It is often the first thing a man notices.
• Irregular or missed periods. The equivalent signal in women, though periods also delay the whole condition.
• Weight loss and weakness. Less common early on, easy to attribute to something else.

“These symptoms can have many different causes and may sometimes just be because of getting older.”

NHS, Haemochromatosis: Symptoms

The NHS is being fair. Most tired people with sore hands do not have iron overload. But the later signs are not vague at all, and by then the iron has been doing damage for years. The NHS lists bronzed or greyish skin, pain and swelling in the belly, yellowing of the skin and eyes, constant thirst with frequent urination, chest pain, breathlessness and an irregular heartbeat.

Each of those maps to an organ. Thirst and frequent urination is the pancreas, and means diabetes. Yellowing is the liver. Chest pain and an uneven pulse are the heart. The point of testing early is to never reach this paragraph. Our joint pain blood test guide covers the finger-joint pattern in more detail.

2. Who is most likely to have haemochromatosis?

More people than have been told. About one UK adult of European descent in 156 carries the genes for it.

The main cause is two faulty copies of a gene called HFE, one from each parent. One copy on its own does not cause overload, but it can be passed on. The NHS says the condition is most common in people of white northern European background, and especially where many people have Celtic ancestry: Ireland, Scotland and Wales.

The best count comes from UK Biobank, which genotyped 451,243 volunteers of European descent aged 40 to 70. Of those, 2,890 carried two copies of the faulty gene. That is 0.6 per cent, or one in 156. By the end of seven years of follow-up only 21.7 per cent of those men and 9.8 per cent of those women had a haemochromatosis diagnosis on their hospital records.

The same men were four times more likely to have liver disease, twice as likely to have osteoarthritis and half again as likely to have diabetes as men without the variant. The authors' point was blunt: the damage is preventable if treatment starts early, and most carriers never find out.

Men show symptoms sooner. Women lose iron every month through periods, so the NHS notes many do not have problems until after the menopause. A woman in her fifties whose tiredness arrived with her last period has more than one explanation to check.

3. Which blood tests catch iron overload?

Two, read together. One shows how much iron is in transit, the other how much is banked.

• Transferrin saturation. Transferrin is the protein that carries iron round the blood. Saturation is the share of its seats that are full. The NHS describes it as the test that shows whether you have a high iron level in the blood. A British Journal of General Practice review puts the threshold at above 45 per cent. Our guide to normal transferrin saturation levels lists what UK labs use.
• Ferritin. Ferritin is the protein that holds iron in reserve, so it shows how much you have banked. It is the number that gets flagged first, and the number most often misread. The British Society for Haematology says a raised ferritin can come from iron overload, inflammation, liver or kidney disease, cancer or metabolic syndrome, and calls transferrin saturation the key test for telling them apart.
• The gene test, if both point the same way. The NHS says that if your blood tests suggest haemochromatosis you will have a test to see if your DNA carries the gene. That is an NHS test, ordered through a GP, and it is what actually confirms the condition.

A high ferritin with a normal saturation usually means something other than overload, and our high ferritin guide walks through those causes. A high ferritin with a high saturation is the pattern that earns a GP appointment and a gene test.

Helvy's Vitamins & Minerals panel (£159) carries the full iron set from a home finger-prick sample: iron, ferritin, transferrin, transferrin saturation and total iron binding capacity. The liver is the organ that takes the first damage from overload. The liver enzyme ALT sits on the Thyroid & Vital Organs panel (£159). The liver function test guide explains what a raised ALT means, and the energy and fatigue hub covers the other causes of the tiredness that usually starts the search.

One honest limit. A blood test measures these markers and offers wellness insight. It is not a test for haemochromatosis and it does not diagnose it. Only the gene test does that, and a qualified clinician reads the iron markers in context. If a parent or sibling has been diagnosed, the NHS will test you free through your GP, symptoms or not.

4. What happens after a high result?

A GP appointment, a gene test, and if it confirms, a treatment that is close to free.

The NHS treatment is venesection: removing a unit of blood, the way a donor gives one. The body rebuilds the red cells using stored iron, so each session draws the reserve down. It can be weekly at first. Once the iron is back to normal it drops to two to four times a year for life. Some people who cannot have blood removed take a medicine that binds iron instead.

• Tell your relatives. The NHS advises anyone with a diagnosed parent or sibling to ask a GP for a test, even with no symptoms. Siblings share your parents, so they share your odds.
• Stop any iron supplement. The NHS says to avoid iron supplements and iron-fortified cereals. Our iron deficiency guide makes the same point from the other direction: never take iron without a blood test first.
• Go easy on alcohol. The liver is carrying the iron. The NHS asks people with the condition to avoid drinking too much.
• Keep the liver in view. A yearly ALT alongside the iron markers shows whether the organ that stores most of the excess is coping.

The NHS says that without early treatment the iron can damage the liver, pancreas, joints and heart. Caught before that, venesection keeps the reserve down for life. The outcome depends on when the first test is taken, which is why the tired, achy, forgettable years matter more than the dramatic ones.

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