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Targeted screening for hereditary haemochromatosis in high‐risk groups
Author(s) -
DuBois S.,
Kowdley K. V.
Publication year - 2004
Publication title -
alimentary pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.308
H-Index - 177
eISSN - 1365-2036
pISSN - 0269-2813
DOI - 10.1111/j.1365-2036.2004.02024.x
Subject(s) - medicine , penetrance , hemochromatosis , life expectancy , population , expressivity , genetics , phenotype , gene , environmental health , biology
Summary Patients with hereditary haemochromatosis are at risk for significant morbidity from iron overload as well as reduced life‐expectancy once cirrhosis is established. Although inexpensive, sensitive screening tests and effective therapy are available, there is continued debate regarding the utility of screening for this condition because of recent data suggesting that the homozygous haemochromatosis mutation (C282Y) is associated with low penetrance and mild expressivity when identified in population screening studies. In this review, we examine the published data related to general population screening for haemochromatosis, as well as the evidence for screening selected ‘high‐risk’ populations. We also suggest possible screening strategies based on the available evidence.