Summary
During a 3-year period, newborns in the eastern part of the Netherlands were investigated for alpha1-antitrypsin deficiency. Electroimmunoassay was used for screening, followed by Pi typing in suspected cases. In all 95 033 newborns were screened, and a mean frequency of deficiency (phenotypes PiZ, PiSZ, and PiS) of 8.00 in 10 000 was found.
The distribution of deficient Pi types over the area was remarkably uneven, Pi type Z being more predominant north and Pi type S south of the Rhine. Cluster areas of alpha1-antitrypsin deficiency, with frequencies of up to 59.6 in 10 000 liver births, occurred mainly in small rural communities. In urbanized areas the frequency of deficiency was lower than the mean.
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Dijkman, J.H., Penders, T.J., Kramps, J.A. et al. Epidemiology of alpha1-antitrypsin deficiency in the Netherlands. Hum Genet 53, 409–413 (1980). https://doi.org/10.1007/BF00287064
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DOI: https://doi.org/10.1007/BF00287064