National alpha-1 antitrypsin deficiency targeted detection programme

Alpha-1 antitrypsin (AAT) is a 52kDa glycosylated protein produced by the liver and secreted into the blood. AAT diffuses into the lungs where it functions as an antiprotease. Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterised by low serum levels of AAT and is associated with lung and liver disease. In May 2004, a national targeted detection programme for AATD was established in Beaumont Hospital. Funded directly by the Department of Health, the programme provides free testing to patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, and cryptogenic liver disease, and to relatives of AATD patients. A range of methods are used to diagnose AATD, including phenotyping by isoelectric focusing and genotyping by real-time polymerase chain reaction (RT-PCR). If a patient is diagnosed with AATD, the Alpha One Foundation provides a range of ancillary services including counselling, expert advice, information packs and leaflets, and opportunities to enrol in clinical trials and to join the alpha-1 patient support group.