Haemochromatosis

Also called Iron overload, Genetic haemochromatosis

The body absorbing too much iron, for decades, silently. One of the most common genetic conditions in the UK and one of the most missed.

What it is

An inherited condition in which the gut absorbs too much iron from food. The excess is deposited in the liver, heart, pancreas, joints and endocrine glands, damaging them over years.

It is common. Around 1 in 150 people of northern European ancestry carry two copies of the relevant gene change, making it one of the commonest genetic conditions in the UK, and it is substantially under-diagnosed.

The reason is that the early symptoms are fatigue and joint pain, which are the two most common symptoms in general practice. People are investigated for everything else, and the simple blood tests that would identify it, ferritin and transferrin saturation, are not requested.

Untreated it causes cirrhosis and liver cancer, diabetes, heart failure and arrhythmias, arthritis, impotence and early menopause.

The treatment is remarkable in its simplicity: venesection, taking off a unit of blood regularly, exactly like donating. Done before organ damage occurs, life expectancy is entirely normal. Damage already done to the liver and joints does not reverse, which is the whole argument for diagnosing it early.

Relatives should be tested. Siblings of someone affected have a one in four chance of having two copies.

Signs you might notice

Fatigue, often profound, and often the only early symptom.

Joint pain, characteristically in the second and third knuckles of the hand, where gripping and shaking hands hurts. This particular pattern is a useful clue.

Abdominal pain, and later signs of liver disease.

Loss of libido, erectile difficulty, early menopause.

A bronze or grey tinge to the skin, which is a late sign and not reliable.

New diabetes, particularly with liver abnormalities.

Heart palpitations, breathlessness, or heart failure.

Ask for ferritin and transferrin saturation in anybody with unexplained fatigue plus joint pain, unexplained liver blood test abnormalities, or a family history.

How it can affect day-to-day life

Once on treatment, life is close to normal. Venesection is weekly or fortnightly at first, sometimes for a year or more, then a few times a year for life.

Many people can donate blood through the normal service, which turns a treatment into something useful and is not always offered.

Diet is a smaller factor than people assume. Vitamin C supplements increase iron absorption and should be avoided around meals, and alcohol should be limited because it multiplies liver damage. Iron supplements and multivitamins containing iron must be avoided entirely.

Raw shellfish carries a specific and serious infection risk in iron overload and should be avoided.

Fatigue and joint pain often persist after iron levels normalise, which is disappointing and worth expecting.

Relatives frequently go untested for years because nobody made it anybody's job.

Supporting someone well

Ask for ferritin and transferrin saturation. That is the test, and asking for it by name is usually what gets it done.

Get first-degree relatives tested. This is the highest-yield thing in the entry.

Have venesection as scheduled, and ask about donating through the blood service if eligible.

Avoid iron supplements and multivitamins containing iron, and avoid vitamin C supplements with meals.

Limit alcohol; it compounds the liver damage.

Avoid raw shellfish.

Ask about liver assessment, including a FibroScan, and about six-monthly liver cancer surveillance if cirrhosis is present.

Ask for diabetes, heart and hormone checks at diagnosis.

Where to get help

A GP practice for the blood tests and family testing; hepatology or haematology for management.

British Liver Trust on 0800 652 7330 have clear information on iron overload.

Guts UK for related digestive and liver information.