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Screening for Heterozygous Alpha1-Antitrypsin Deficiency: II. Effect of Other Serum Protein Abnormalities

[+] Article, Author, and Disclosure Information

The technical assistance of Mrs. Bonna Garoutte is gratefully acknowledged.

*We have found that estrogens and occasionally corticoids may cause the antitrypsin level of heterozygotes to rise into the low normal range.

▸Requests for reprints should be addressed to Jack Lieberman, M.D., City of Hope Medical Center, 1500 E. Duarte Road, Duarte, Calif. 91010

Duarte and Los Angeles, California

Ann Intern Med. 1970;73(1):9-13. doi:10.7326/0003-4819-73-1-9
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Screening to detect heterozygous alpha1-antitrypsin deficiency was done in 400 acutely and chronically ill patients without pulmonary disease. Electrophoresis of serum proteins on cellulose-acetate membranes was followed by an enzymatic assay of inhibitor on those sera with less than 0.25 g/100 ml alpha1-globulin. Forty-eight patients had gross electrophoretic abnormalities of gamma globulin, alpha2-globulin, or of total protein content with normal alpha1globulin or antitrypsin activity. This included all patients with nephrosis and cirrhosis. Seventeen patients had antitrypsin levels in the heterozygous range, and nine of these had a disease that could potentially affect protein metabolism. Adequate family studies performed in six of these nine patients substantiated the heterozygous state. No other protein abnormalities or disease states have been found to produce falsely low antitrypsin levels. The method does not falsely identify normal individuals as heterozygotes when other gross serum protein abnormalities exist.





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