Screening for Hemochromatosis in Asymptomatic Subjects With or Without a Family History
Author(s) -
Lawrie W. Powell,
Jeannette L. Dixon,
Grant A. Ramm,
David M. Purdie,
Douglas Lincoln,
Gregory J. Anderson,
V. Nathan Subramaniam,
David G. Hewett,
J. Searle,
Linda Fletcher,
Dorothy H. Crawford,
Helen Rodgers,
Katrina J. Allen,
Juleen A. Cavanaugh,
Mark L. Bassett
Publication year - 2006
Publication title -
archives of internal medicine
Language(s) - English
Resource type - Journals
eISSN - 1538-3679
pISSN - 0003-9926
DOI - 10.1001/archinte.166.3.294
Subject(s) - hemochromatosis , asymptomatic , family history , hereditary hemochromatosis , medicine , psychology
Hemochromatosis in white subjects is mostly due to homozygosity for the common C282Y substitution in HFE. Although clinical symptoms are preventable by early detection of the genetic predisposition and prophylactic treatment, population screening is not currently advocated because of the discrepancy between the common mutation prevalence and apparently lower frequency of clinical disease. This study compared screening for hemochromatosis in subjects with or without a family history.
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