Submission to the Joint Oireachtas Committee on Health and Children
To be presented by Kitty O’Connor, CEO Alpha One Foundation
Thursday 7th February 2013
Alpha One Foundation, RCSI Building, Beaumont Hospital, Dublin 9
Telephone: 01 8093871 Fax: 01 8093702
Web: www.alpha1.ie
Charity Code: CHY14812
1. What is Alpha-1?
Alpha-1 antitrypsin deficiency is more commonly known as hereditary emphysema. This genetic
disorder can also cause liver disease. The Alpha One Foundation is a research charity based in
Beaumont Hospital which is the national referral centre for Alpha-1. 1 in 25 Irish people are
carriers for the condition, making it the second most common genetic lung condition in Ireland.
Alpha-1 is the fourth commonest cause for lung transplantation globally. The first single lung and
the first double lung transplants in Ireland were due to Alpha-1. Our research shows that 2,000
people on the island of Ireland are severely affected with another 12,000 individuals also at risk,
particularly if they smoke. The National Targeted Detection Programme was established to test
individuals with Chronic Obstructive Pulmonary Disease, poorly controlled asthma, unexplainable
liver disease and first degree relatives of known alpha-1 individuals. Early detection of Alpha-1
individuals is a real example of personalised medicine, and yields improvements in quality of life
and life expectancy, and smoking cessation. To date our screening programme has screened
10,000 individuals for Alpha-1. We have found over 300 individuals have a severe deficiency and
a further 2,000 individuals have a milder form.
2. Alpha One Foundation and the Irish Lung Health Alliance
Alpha One Foundation wanted to highlight lung health in Ireland by joining with other lung health
charities and establishing the Irish Lung Health Alliance group. This is a unique partnership that
brings together key stakeholders involved in Lung Health in Ireland. The group consists of 12
patient charities, patient support groups and health professionals. Its key messages are early
diagnosis, early intervention and increased awareness of lung health. We in the Alpha One
Foundation feel we have benefited from membership of this group. For example, last year we
helped to launch the ‘Love your Lungs’ campaign. The aim was to highlight the fact that lung
disease affects people of all ages, all socio-economic backgrounds and non-smokers as well as
smokers. We encouraged people who had symptoms of cough, wheeze and shortness of breath to
avail of a free lung test. In the same way that blood pressure measurements provide a simple yet
effective screening method for heart disease, breathing tests can help to unmask the early
symptoms of a variety of lung conditions before serious disease develops. This campaign has
shown that lung disease is highly prevalent and under diagnosed. The Irish Lung Health Alliance
wants to involve all stakeholders involved in lung health and gives a voice to thousands of patients
suffering with lung disease. We aim to be the main point of contact for the government in efforts
to raise awareness of lung health and its importance, and in formulating future health policies.
Appendix
Prevalence of Alpha-1 in Ireland
Genotype
Prevalence [%, 95% CI]
Numbers in Irish Population
MS
1/10
[10.00%, 9.70 - 10.30%]
423,947
MZ
1/25
[4.03%, 3.97 - 4.03%]
170,832
SS
1/341
[0.29%, 0.20 - 0.40%]
12,409
SZ
1/424
[0.24%, 0.23 - 0.25%]
10,001
ZZ
1/2,104
[0.05%, 0.04 - 0.06%]
2,015