title: Electrophoresis of serum protein to detect alpha 1-antitrypsin deficiency: five illustrative cases.
abstract: We describe five cases of severe alpha 1-antitrypsin (AAT) deficiency to illustrate the importance of visual inspection of electrophoretic patterns of serum proteins. In four patients the diagnosis of AAT deficiency was clinically unsuspected; in the other patient, the electrophoretic pattern was the first clue to confirm the diagnosis. Densitometric scanning of these patterns invariably overestimated the concentration of alpha 1-globulin. By visually inspecting electrophoretic strips instead of relying on densitometry, clinical chemists can help detect AAT deficiency earlier.
mesh_terms: D000328:Adult; D000368:Aged; D001249:Asthma / Q000201:enzymology; D001798:Blood Proteins / Q000032:analysis*; D003720:Densitometry; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D006529:Hepatomegaly / Q000201:enzymology; D006801:Humans; D007223:Infant; D007565:Jaundice / Q000201:enzymology; D007674:Kidney Diseases / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D010641:Phenotype; D012859:Sjogren's Syndrome / Q000201:enzymology; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D001798:Blood Proteins