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The prevalence of alpha-1 antitrypsin deficiency in Ireland


Caroll, P. T., et al

Subject Keywords: Alpha-1 antitrypsin (AAT) deficiency
Topic: Chronic Airflow Obstruction (CAO)
Chronic Conditions
Chronic Conditions
Region: Republic of Ireland

Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.



Rights: © 2011 Carroll et al
Suggested citation:

Caroll, P. T., et al. (2011) The prevalence of alpha-1 antitrypsin deficiency in Ireland [Online]. Available from: [Accessed: 16th June 2019].


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