Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.

Alpha-1 antitrypsin is encoded by the polymorphic SERPINA1 gene, with pathogenic variants causing alpha-1 antitrypsin deficiency. While being underrecognized, alpha-1 antitrypsin deficiency can be screened through serum protein electrophoresis (SPE) to detect mutations. This study aimed to evaluate the effectiveness of an SPE-based screening protocol for identifying SERPINA1 mutations and diagnosing alpha-1 antitrypsin deficiency.