Research centre for genetic deficiency opens

Beaumont Hospital: A new centre has opened in Beaumont Hospital to research a serious hereditary condition that can cause liver…

Beaumont Hospital: A new centre has opened in Beaumont Hospital to research a serious hereditary condition that can cause liver and lung diseases.

An estimated 1,000 people in Ireland have the genetic deficiency and a further 200,000 carry a single gene that may cause them to suffer liver and/or respiratory problems.

Alpha-One Antitrypsin Deficiency is one of the most common serious hereditary disorders worldwide and can be life threatening if not treated.

It affects people who have low levels of the protein Alpha-One Antitrypsin in their blood - it protects against a enzyme in white blood cells that damages the lungs leading to shortness of breath, infections, allergies and/or asthma.

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Being a genetic ailment it is not curable, but with regular health checks and treatment, people with the disorder can live a normal life.

A simple blood test can detect the problem, but sufferers and carriers of Alpha-One are often misdiagnosed as having Chronic Obstructive Pulmonary Disease (COPD) or asthma. Less than 10 per cent of the predicted number of those with the deficiency have been diagnosed.

The Minster for Health and Children, Michéal Martin marked the opening of the research programme at the Royal College of Surgeon's Education and Research Centre at Beaumont Hospital.

The centre at the hospital will run a detection programme giving information to people with Alpha-One and advising them how to keep healthy.

Prof Gerry McElvaney of the RCSI said: "There are steps which someone who is Alpha-One deficient or who is a carrier of the gene should take, and these will potentially reduce risks of developing serious lung or liver conditions."

Once individuals have been identified as being Alpha-One deficient, they are strenuously advised to avoid exposure to tobacco smoke, dust, fumes and other pollutants.

Mr Martin said: "Cigarette smoke aggravates the problem and the majority of patients who eventually present with COPD and are diagnosed as having Alpha-One have a history of cigarette smoking, which is estimated to shorten the life span by up to 20 years. I make no apology for making the fight against smoking one of my top priorities."

The Alpha-One Foundation welcomed the recent ban on smoking in the workplace. Its chief executive, Larry Warren, said: "People with Alpha-One are now able to go to work, participate in leisure activities and live their lives without being exposed to fatal tobacco smoke."

Sufferers and carriers are advised to be moderate in their consumption of alcohol as it damages the liver, where the protein is made.

More than 20 hospitals are participating in the programme and are expecting to test 25,000 people over the next five years. The samples and results will be examined at the Beaumont-based centre.

Mr Martin said: "The purpose of the Targeted Detection Programme is to detect, identify and treat as many people in Ireland as possible who suffer from Alpha-One."

The programme is an important element of the National Lung Transplant Programme as the ailment often causes fatal lung disease and early identification of people with the disorder will reduce their need for hospitalisation, improve their life expectancy and lifestyle.

Mr Martin said: "The World Health Organisation has endorsed a target of detection programme for Alpha-One deficiency, testing all individuals with chronic obstructive lug disease and I'm delighted to say that Ireland is to the fore in this field with the commencement of the world's second programme."