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Population Screening for Hemochromatosis: The Evolving Role of Genetic Analysis

Jessica G. Davis, MD
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Joan and Sanford I. Weill Medical College of Cornell University; New York, NY 10021 Requests for Reprints: Jessica G. Davis, MD, Joan and Sanford I. Weill Medical College of Cornell University, Genetics HT 150, 525 East 68th Street, New York, NY 10021.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1998;129(11_Part_1):905-908. doi:10.7326/0003-4819-129-11_Part_1-199812010-00014
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All clinicians are aware of the recent explosion of new genetic information. The number of genetic disorders with a defined molecular cause continues to increase rapidly. In turn, the successes of gene mutation analysis are reflected in the marked proliferation of genetic screening and diagnostic assays, including carrier tests. Unanticipated dividends have also resulted from gene mutation analysis. One of these is the identification of novel and unexpected mechanisms of mutation and genetic variation (for example, trinucleotide expansion and imprinting), which enhance our understanding of the intricacies of certain human genetic disorders.

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