Alpha 1-antitrypsin screening of 18-year-old men.
In 11 128 apparently healthy 18-year-old men screened for alpha 1-antitrypsin deficiency (AATD) 44 had an alpha 1-antitrypsin (AAT) level of 50% or less of the transferrin reference. In 42 of the 44 the Pi types were: five Pi Z, 10 Pi SZ, three Pi MZ, one presumptive Pi M-, one Pi FM, and 22 Pi M. Probably all Pi Z and most of the Pi SZ subjects were identified. The transferrin reference, however, is probably less reliable for the study of this age group, and alpha 1-antichymotrypsin may provide a more valid reference for the AAT screening procedure. In the clinical investigation the additive risk factor of smoking was discovered in eight of 15 individuals with AATD Pi Z or Pi SZ. We believe screening for Pi Z and probably also Pi SZ AATD should be done before young people start smoking or train for jobs in polluted environments.
D000293:Adolescent; D000328:Adult; D005820:Genetic Testing; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000209:etiology; D008297:Male; D010641:Phenotype; D012907:Smoking / Q000150:complications; D014168:Transferrin / Q000032:analysis; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D014168:Transferrin; D000515:alpha 1-Antitrypsin