Abstract
Alpha-1 antitrypsin deficiency (AATD), a Mendelian genetic disorder with an estimated prevalence of 1:2000-7000, is underdiagnosed. Screening guidelines from the American Thoracic Society and the World Health Organization recommend broad screening of individuals who present with phenotypes or risk factors that overlap with AATD. However, the current diagnostic rate for AATD is as low as two percent by some estimates. While AATD is a genetic disorder, clinical detection typically relies on measuring the alpha-1 antitrypsin protein (encoded by SERPINA1) in the blood, followed by gel electrophoresis-based protease inhibitor (PI) typing to phenotype which alleles are present.
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