Hemochromatosis penetrance

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This week, the New England Journal of Medicine publishes a study on the penetrance of HFE hereditary hemochromatosis. 31 000 individuals were studied in Australia. There were 203 C282Y homozygotes. Of these, 28% of the males and 1% of the females developed iron-overload-related diseases.

Read more at:
Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis
KJ Allen, LC Gurrin, CC Constantine, et al.
NEJM Volume 358:221-230  January 17, 2008  Number 3

Editorial by BR Bacon and BS Britton

 

 
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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