Article
To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening.
Clinical genetics - 1 Sept 2013
Delatycki M B, Wolthuizen M, Aitken M A, Hickerton C, Metcalfe S A, Allen K J
Abstract excerpt
Hereditary hemochromatosis (HH) is a common preventable disorder of iron overload that can result in liver cirrhosis and reduced lifespan. Most HH is due to homozygosity for the HFE p.C282Y substitution. We conducted a study of screening for p.C282Y in high schools where p.C282Y heterozygotes (CY) individuals were informed of their genotype by letter. We studied whether these individuals understood the...
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