Article
Testing Alpha-1 Antitrypsin Deficiency in Black Populations.
Advances in respiratory medicine - 19 Dec 2023
Lafortune Pascale, Zahid Kanza, Ploszaj Magdalena, Awadalla Emilio, Carroll Tomás P, Geraghty Patrick
Abstract excerpt
Alpha-1 antitrypsin (AAT) deficiency (AATD) is an under-recognized hereditary disorder and a significant cause of chronic obstructive pulmonary disease (COPD), a disease that contributes to global mortality. AAT is encoded by the SERPINA1 gene, and severe mutation variants of this gene increase the risk of developing COPD. AATD is more frequently screened for in non-Hispanic White populations. However, AATD is...
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