Article
Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
Journal of medical genetics - 1 May 2005
Cadet E, Capron D, Gallet M, Omanga-Léké M-L, Boutignon H, Julier C, Robson K J H, Rochette J
Abstract excerpt
BACKGROUND: Genetic testing can determine those at risk for hereditary haemochromatosis (HH) caused by HFE mutations before the onset of symptoms. However, there is no optimum screening strategy, mainly owing to the variable penetrance in those who are homozygous for the HFE Cys282Tyr (C282Y) mutation. The objective of this study was to identify the majority of individuals at serious risk of developing HFE...
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