Joannah Kim, Isabelle Koff, Thomas Ardiles, Aamir Ali1, Brandon Brown. TrilliumBiO, Rockville, MD, United States, Grifols Shared Service North America, Research Triangle Park, NC, 3UC Riverside School of Medicine, Riverside, CA, United States
Introduction:
- Alpha-1 Antitrypsin Deficiency (AATD) is a hereditary disorder that predisposes individuals to early-onset pulmonary disease, including emphysema and COPD.
- AATD remains underdiagnosed due to low awareness despite multiple screening options.
- The AlphaID™ Confirm Testing Program provides a nationwide platform for genotyping and quantitative A1AT from dried blood spots (DBS), enabling large-scale assessment of genotype–phenotype relationships in a real-world population.
Methods:
- Retrospective study that evaluated the A1AT serum levels derived from DBS in relation to observed SERPINA1 genotype from 35,186 patients tested between January 2024 and September 2025 through AlphaID™ Confirm Testing Program to determine A1AT.
- A1AT concentrations determined by immunoturbidimetry.
- SERPINA1 genotypes determined by real-time PCR.
- Quantitative A1AT levels (mg/dL) were compared across SERPINA1 genotypes, categorized as normal (MM), heterozygous, or compound heterozygous variants.
- Descriptive and comparative statistical analyses were used to assess mean and median A1AT concentrations, interquartile variability, and distribution.
Results:
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