The Bologna allele was later detected in homozygosity in two unrelated subjects, both born in Egypt: (i) a 44-year-old male (subject 2.1), previous smoker (30 pack/years), metalworker, suffering from centrilobular emphysema (FEV1 54%, FVC 62% and DLCO 45% of predicted values), with a plasma AAT concentration of 0.34 g/L; and (ii) a 39-year-old male (subject 3.1), current smoker (56 pack/years), bricklayer, suffering from emphysema, with a plasma AAT level of 0.28 g/L. Here, SERPINA1 is linked to pulmonary emphysema.