Haemochromatosis: ‘Most common’ genetic disorder test call

Jenny Lees
Image caption Jenny Lees has haemochromatosis and believes her mother, sister and son died from the symptoms

A woman who believes three members of her family died from the UK’s most common genetic disorder wants to see routine testing introduced.

New research from Exeter University shows haemochromatosis could be causing serious health issues for 20 times more people than previously thought.

Jenny Lees’ son Jason Cloke died in 2010 aged 42 after his organs were damaged by a build up of iron.

Her mother and sister died from severe liver damage, a common symptom.

She now wants to see regular blood tests, which can pick up the condition, become more frequent.

Haemochromatosis makes the body absorb too much iron from a person’s diet and affects about 250,000 people in the UK.

It was thought to lead to diabetes, liver disease and severe arthritis in about one in 100 carriers but new research has suggested the true level could be closer to one in 10 among female carriers, and one in five for males.

Image copyright Jenny Lees
Image caption Jason Cloke died after his organs were damaged by a build up of iron

Professor David Melzer, from Exeter University, said the researchers were also hoping the NHS would find routine ways of testing for it.

Mrs Lees has haemochromatosis and said she was affected by extreme fatigue and arthritis.

While her mother and sister were never diagnosed before their deaths, the cause of her son’s death was confirmed as haemochromatosis.

“His liver was cirrhosed, he had chronic diabetes, he then picked up hepatitis A and they couldn’t give him the antibiotics that he needed,” said Mrs Lees.

“You don’t believe that you’re going to lose a child before your death, it’s the wrong way round.”

What is haemochromatosis?

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Media captionBBC News NI Health Correspondent Marie-Louise Connolly explains Haemochromatosis.
  • Haemochromatosis is a condition that leads to the accumulation of iron in the organs of the body
  • It is caused by a faulty gene – Northern Europeans with Celtic origins, particularly of Irish backgrounds, are more likely to carry the gene
  • Symptoms include fatigue, joint disease, skin problems, and sexual health issues – left untreated it can cause serious illness such as liver cancer and cirrhosis
  • Treatment is relatively simple and consists of venesection (bloodletting) – as the body makes more blood to replace that taken, it uses up the excess stored iron

Source: Haemochromatosis UK

Professor Melzer said he was astonished at the findings.

While haemochromatosis is easy to treat if caught early enough, he said the condition was “difficult to spot”.

“It tends to only be diagnosed quite late on when a lot of the damage is done and treatment is only partially successful,” he added.

The research has been welcomed by Public Health England, which said it could affect clinical practice.

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