What question did this study set out to answer?

To determine the prevalence of alpha-1-antitrypsin deficiency alleles in the Polish population through newborn screening.

March 24, 2026

The incidence of alpha-1-antitrypsin (A1AT) deficiency alleles in Polish population - results from large scale newborn screening

Key Points

To determine the prevalence of alpha-1-antitrypsin deficiency alleles in the Polish population through newborn screening.
Performed large scale newborn screening from September 2011 to September 2013.
Collected dried blood spot (DBS) samples from 4948 newborns across participating centers.
Measured AAT serum concentration using nephelometry and identified alleles with real-time PCR.
Analyzed 4984 DBS samples with deficiency S allele in 2.1% and Z allele in 2.3% of samples.
Overall prevalence of deficiency alleles observed in 4.4% of the analyzed samples.
Calculated frequencies per 1000 for PI*Z at 11.5 and PI*S at 10.6.
Demonstrated higher prevalence of deficiency alleles than previously suggested.

Abstract

Data regarding the prevalence of A1AT deficiency in Poland are very limited due either to small groups analyzed or unreliable methodology. Between September 1 st , 2011 and September 30 th , 2013 we performed the large scale newborn screening in a group representative for the population of Central Poland. Methods: DBS samples were collected prospectively from all children delivered alive in participating centers, n=4948 newborns. AAT serum concentration was measured by nephelometry and and PI*S and PI*Z alleles were identified by real-time PCR. Results: 4984 DBS samples were analyzed. Deficiency S or Z allele were observed respectively in 106 (2,1%) and 115 (2,3%) DBSs, in total 221 (4,4%) samples. Calculated frequencies expressed per 1000 were for PI*Z 11,5 (95% CI: 9,4-13,6), PI*S 10,6 (95% CI: 8,6-12,6). The AAT gene prevalence calculated by Hardy-Weinberg equilibrium were: 1/1.04 for non-S non-Z, 1/48 for S non-Z, 1/8843 for SS, 1/44 for non-S Z, 1/4075 for SZ and 1/7513 for ZZ. The mean A1AT concentration was 186±39 mg/dl, in non-S non-Z individuals 188±38 mg/dl, in PI*S carriers 161±34 mg/dl, in PI*Z 127±22 mg/dl. Conclusion: Our project is the first large scale study in Europe since the Sweedish A1AT screening program in the 70s. We are the first to present prospective data representative for the Polish population. Importantly, we demonstrated higher prevalence of deficiency alleles than previously suggested.

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