Alpha-1 Antitrypsin Deficiency

The Rotary Club of Hornsby District was graced by the presence of Dr. Gaynor Heading who gave a very informative presentation of this common genetic disorder. Since then, we have taken it upon ourselves to not only learn more about the condition but raise awareness about it too.

Aplha-1 Antitrypsin Deficiency (Alpha-1) is passed down from parents to their children through their genes. There are over 100 types of faulty alpha-1 genes but only 10% of the people have been diagnosed with this condition. It is remarkable that one in nine Australians have the faulty gene, yet it goes undetected due to the lack of awareness of about the disorder.

Alpha-1 is a lack of the protein called apha-1 antitrypsin (AAT), which is produced in the liver. The main role of the AAT is to protect the lungs and a deficiency of cause life-threatening lung and/ or liver disease, which can reduce your quality of life.

In children, the disease usually shows up in the first few months of their life, usually in the form of liver damage. In adults, symptoms of lung disease may appear between ages 20 and 50. These can include: shortness of breath following mild activity, reduced ability to exercise, wheezing, frequent lung infections, and fatigue.

It is recommended that everyone should be tested for the alpha-1 if they have been diagnosed with ‘adult asthma’ or Chronic Obstructive Pulmonary Disease (COPD). You should also be tested if you regularly have colds and flus that take a long time to get over or result into pneumonia, you have unexplained liver disease, or you have a diagnosis of panniculitis.

To learn more about the condition please visit the Alpha-1 Organisation Australia’s website or email:, or phone 0422174590 (Gaynor Heading - the charity’s president who is based in Hornsby).

You can watch Dr. Heading’s presentation on the YouTube channel for the Rotary Club of Hornsby District.