New trial targets ‘common’ inherited disease

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Too much iron in your body can be life-threatening – and a new trial at Brisbane’s Greenslopes Private Hospital aims to help find an alternative treatment for this under-diagnosed condition.

Haemochromatosis is a metabolic disorder which causes about one in 200 people to absorb dangerous levels of iron. It is one of the most common inherited diseases in Caucasian populations.

It is usually treated by regularly removing blood from the body, often around 450ml, in a process called therapeutic venesection. Left unchecked, haemochromatosis can cause organ damage, while the iron build-up can result in cirrhosis, liver cancer and liver failure.

A global study is seeking to find out if a synthetic hormone can instead be used to treat the condition, and Greenslopes-based Gallipoli Medical Research Foundation is the first Australian centre to take part.

The trial will focus on a synthetic form of hepcidin, which regulates iron absorption in the gut. A deficiency in the hormone causes most types of hereditary haemochromatosis.

“If successful, this study will make a huge difference to the quality of life for patients with haemochromatosis,” said Professor Darrell Crawford, director of research at Gallipoli Medical Research Institute and also a gastroenterologist at the hospital.

“I can see a future where some patients with haemochromatosis – particularly those who find venesection difficult to tolerate – will be able to take this synthetic hepcidin.”

Professor Crawford said people should tell their General Practitioner if there is a family history of haemochromatosis, because most sufferers are not aware of having the condition as they do not feel unwell during the early stages.

“Signs to look out for include constantly feeling tired or suffering pain in their joints. Early diagnosis and intervention restores life expectancy to normal for patients with haemochromatosis,” he said.

For more information, and to take part in the trial, visit the GMRF website. 

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