Alpha 1 UK
Alpha 1 UK are a patient group formed by those diagnosed with the genetic condition Alpha 1 Antitrypsin Deficiency, to help and advise fellow sufferers.
In people with A1AD there is a fault in a gene that is on chromosome 14. This fault causes the AAT protein to be mis-shaped and it has been shown that the molecules of the protein stick together to form "polymers". This malformed protein becomes "stuck" in the liver and cannot get into the blood stream.
To have A1AD means that you have inherited a faulty gene from both parents so that both chromosome 14's have the faulty gene. This is the highly deficient state where blood levels show that less than 20% of normal levels are circulating in the blood. There are many subtle differences in the gene that makes AAT. It is said to be "polymorphic" and up to 100 different types of AAT have been documented.
For further information, please see website.
Who to contact