Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy
S Cassanelli, E Pignatti, G Montosi, C Garuti… - Journal of …, 2001 - Elsevier
Background/Aims: The actual prevalence of the main hemochromatosis (HFE) mutations in
the Italian adult population and their phenotypic expression have not yet been established.
This information is key to advocate a mass-screening program. Methods: Two thousand one
hundred adults were tested for the C282Y/H63D HFE gene mutations by an automated
genotyping assay as well as transferrin saturation (TS) and serum ferritin levels. Results: No
homozygotes for the C282Y mutation were found. Heterozygosity for the C282Y mutation …
the Italian adult population and their phenotypic expression have not yet been established.
This information is key to advocate a mass-screening program. Methods: Two thousand one
hundred adults were tested for the C282Y/H63D HFE gene mutations by an automated
genotyping assay as well as transferrin saturation (TS) and serum ferritin levels. Results: No
homozygotes for the C282Y mutation were found. Heterozygosity for the C282Y mutation …