National Screening Programme

National Alpha-1 Targeted Detection Programme

The Alpha One Foundation is dedicated to increasing diagnosis, raising awareness and improving the treatment of Alpha-1 Antitrypsin Deficiency (Alpha-1). Alpha-1 is a common inherited disease but is massively under-diagnosed, and affects over 250,000 carriers on the island of Ireland, with 3,000 of these having severe deficiency. If undetected, Alpha-1 leads to severe lung and liver disease. Most patients present in their 40s and 50s with early-onset emphysema or chronic obstructive pulmonary disease (COPD). A sub-group presents with liver disease in the first year of life and may require liver transplantation. Early diagnosis is vital for health and welfare of our patients, and this is our main objective. For example, the average Alpha-1 patient in the US sees 5 doctors over 7 years for a correct diagnosis.  The World Health Organisation (WHO) recommends the following patient groups for screening:

  • All COPD patients
  • All non-responsive asthmatics
  • All cryptogenic liver disease patients
  • All first-degree relatives of known Alphas
  • Individuals with reduced serum levels of AAT
  • Panniculitis patients

Diagnostic Services Provided

There are 3 main diagnostic services provided by the Alpha One Foundation for the diagnosis of Alpha-1 Antitrypsin Deficiency:

  • Phenotyping
  • Genotyping
  • Quantification of serum AAT

There are also a range of ancillary services provided such as patient advice and support, referral to our specialist Alpha-1 clinic, opportunities to enrol in clinical trials, educational services, and access to the Alpha-1 patient support group.

Who is Eligible to Access our Services?

Healthcare professionals who are involved in the treatment, care and management of the patient groups specified in the World Health Organisation guidelines for screening presented above. These include:

  • Hospital laboratories
  • Consultant respiratory physicians
  • GPs
  • Research nurses
  • Physiotherapists
  • Smoking cessation officers