α-1 Antitrypsin Genotype-Phenotype Discrepancy in a 42-Year-Old Man Who Carries the Null-Allele

Background Alpha-1-antitrypsin (A1AT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene and associated with lung emphysema and liver disease. Laboratory testing in suspected A1AT deficiency involves quantifying serum A1AT concentration and identification of specific alleles by genotyping and phenotyping. The aim of this report was to present a case of the null allele carrier with consequent...