title: Efficacy of the detection of the alpha1-antitrypsin "Z" deficiency variant by routine serum protein electrophoresis.
abstract: Deficiency of alpha1-antitrypsin (AAT) is a common but underdiagnosed genetic disorder. Severe AAT deficiency may be detected by the absence of alpha1-globulin protein fraction by serum protein electrophoresis (SPEP). Routine SPEP may represent an underused resource for the identification of AAT deficiency. Total alpha1-globulin protein was measured in 47 MM, 24 MZ, and 19 ZZ phenotype serum samples by a Sebia CAPILLARYS (Norcross, GA) capillary electrophoresis system. Measured serum AAT concentrations by immunoassay exhibited moderate correlation with measured SPEP alpha1-globulin fraction concentrations. In this sample set, 16 (84%) of the ZZ, 7 (29%) of the MZ, and none of the MM sample phenotypes exhibited alpha1-globulin concentrations of less than 0.21 g/dL. From estimates of MZ and ZZ phenotype prevalence, it can be calculated that 1 ZZ phenotype should be present in approximately every 31 samples with alpha1-globulin concentrations of less than 0.21 g/dL. Clinicians should consider investigation of potential AAT deficiency in patients who exhibit low alpha1-globulin protein levels by routine SPEP.
authors.affiliation: Department of Pathology, University of Utah Health Sciences Center, Salt Lake City ARUP Institute for Clinical and Experimental Pathology, Salt Lake City.
authors.forename: Patricia R
authors.initials: PR
authors.lastname: Slev
authors.forename: Belinda G
authors.initials: BG
authors.lastname: Williams
authors.forename: Terry O
authors.initials: TO
authors.lastname: Harville
authors.forename: Edward R
authors.initials: ER
authors.lastname: Ashwood
authors.forename: Joshua A
authors.initials: JA
authors.lastname: Bornhorst
mesh_terms: D001797:Blood Protein Electrophoresis; D019075:Electrophoresis, Capillary; D006801:Humans; D010641:Phenotype; D020033:Protein Isoforms / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood* / Q000175:diagnosis*
chemical_list: D020033:Protein Isoforms