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Become a Member Alpha-1 Supporting Australians and their families affected by alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (A1AD)

Alpha-1 antitrypsin deficiency (A1AD) is an inherited genetic disorder that can cause a number of diseases including liver disease in children and adults and progressive lung disease in adults. There are currently no curative treatments for patients with Alpha-1 but several clinical trials are underway, providing hope to affected individuals and their families.

The SERPINA1 gene produces alpha-1 antitrypsin (AAT) protein. In healthy individuals the A1AT protein is released from the liver and circulates to protect the lungs and other organs from inflammation and damage. In individuals with a gene mutation, AAT is sometimes misfolded, which can cause a build-up in the liver. When the protein is totally missing, or someone has low levels of the protein, a loss of its protective function in the lungs occurs typically leading to irreversible lung disease.


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Support Australians and their families affected by alpha-1 antitrypsin deficiency.

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