Abstract

α1 antitrypsin (AAT) is a polymorphic protein with more than 100 variants, labeled A through Z according to the electrophoretic migration position compared with the normal M variant.1 An autosomal codominant disorder caused by mutations of the SERPINA1 gene, AAT deficiency (AATD) may produce variable clinical manifestations including lung emphysema and liver cirrhosis, depending on the concentration of functional AAT in blood and tissues. α1 Antitrypsin serum level of 1.1 g/L or higher can be considered evidence of normal status.

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