viernes, 4 de diciembre de 2009

Implementation of ironXS: a study of the acceptabi... [Clin Genet. 2009] - PubMed result


Clin Genet. 2009 Nov 23. [Epub ahead of print]

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools.
Delatycki M, Wolthuizen M, Collins V, Varley E, Craven J, Allen K, Aitken M, Bond L, Lockhart P, Wilson G, Macciocca I, Metcalfe S.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia.


Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis. Predisposition to HH is easily diagnosed and morbidity is preventable by maintaining normal body iron and thus calls have been made to introduce community screening. The current study has been designed to assess the acceptability and feasibility of HH screening in high schools. Students (mostly 15-16 years of age) watched a purpose-designed DVD for education about HH. Those with parental consent were then offered cheek-brush screening for C282Y. Students completed a questionnaire prior to screening. The program was offered to 9187 students at 32 schools and 3489 (38%) had screening. Nineteen C282Y homozygotes (1 in 183) and 376 heterozygotes (1 in 9.3) were identified. More than 90% of students answered each of five knowledge questions correctly. Eight homozygotes (42%) had elevated transferrin saturation, but only two (10.5%) had marginally elevated serum ferritin (SF). We have shown that genetic screening for HH can successfully be offered in the high school setting. Ongoing research in this study will answer questions about the impact of high school students learning that they are at risk of HH.

PMID: 19930418 [PubMed - as supplied by publisher]

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Implementation of ironXS: a study of the acceptabi... [Clin Genet. 2009] - PubMed result

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