Alpha-1-Antitrypsin Deficiency

AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes, neonatal hepatitis, chronic liver disease, cirrhosis and liver cancer), lung disease (asthma, chronic bronchitis, emphysema, COPD, and bronchiectasis) and skin diseases (panniculitis). α-1-Antitrypsin deficiency , in patients, originates from the mutations in the protease inhibiting gene (Pi) located on chromosome 14. Incidence frequency of this highly risky allele is 1/62.

"Genetic information offers an unlimited source of knowledge about human health and development; yet interpreting and applying this information places a huge responsibility on the scientific community."

James Watson