title: Alpha-1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening.
abstract: Considerable attention has been focused upon alpha-1-antitrypsin deficiency because of the insights into the pathogenesis of human pulmonary emphysema that may derive from study of deficient subjects, and because of evolving therapeutic strategies that may slow the progression of lung disease in affected persons. We have applied an automated immunoassay for alpha-1-antitrypsin to plasma samples from 20,000 blood donors. Seven PI Z antitrypsin-deficient persons were identified and confirmed; this is more than twice the number predicted from previous estimates of the Z allele frequency in the St. Louis area. Five of the subjects were further evaluated. We anticipate that this assay, if utilized to screen large populations, could identify many alpha-1-antitrypsin-deficient persons for study of the natural history of lung and liver disease associated with the deficiency. These subjects would be potential candidates for early intervention strategies to prevent the development of lung disease. The surprisingly high prevalence of deficient persons indicates that direct screening is the best method for prevalence estimation of genetic disorders.
authors.affiliation: Divisions of Biostatistics, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: E K
authors.initials: EK
authors.lastname: Silverman
authors.forename: J P
authors.initials: JP
authors.lastname: Miletich
authors.forename: J A
authors.initials: JA
authors.lastname: Pierce
authors.forename: L A
authors.initials: LA
authors.lastname: Sherman
authors.forename: S K
authors.initials: SK
authors.lastname: Endicott
authors.forename: G J
authors.initials: GJ
authors.lastname: Broze
authors.forename: E J
authors.initials: EJ
authors.lastname: Campbell
mesh_terms: D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal; D001782:Blood Donors; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000517:prevention & control; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D008923:Missouri / Q000453:epidemiology; D010641:Phenotype; D015995:Prevalence; D012680:Sensitivity and Specificity; D012907:Smoking; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000911:Antibodies, Monoclonal