The deficiency of AAT is one of the most frequently observed genetic diseases. It occurs at liver (increased liver enzyme, neonatale hepatitis, chronical liver disease, cirrhosis, liver cancer), Lung disease (asthma, chronical bronchitis, emphysema, COLD and bronchectasia) and skin disease (panniculitis).

The deficiency of α-1 antitrypsin results from mutation on the gene of protease inhibitor located 14. chromosome. The frequency of facing PiZ allele that is the most risky allele is 1/162.

The patients suffer this disease can lead a normal life with the treatment. But early diagnosis is important.