Article
Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy.
Journal of hepatology - 1 Apr 2001
Cassanelli S, Pignatti E, Montosi G, Garuti C, Mariano M, Campioli D, Carbonieri A, Baldini E, Pietrangelo A
Abstract excerpt
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...
Topics
- Adult
- Female
- Gene Expression
- Gene Frequency
- HLA Antigens
- Hemochromatosis
- Hemochromatosis Protein
- Heterozygote
- Histocompatibility Antigens Class I
- Homozygote
- Humans
- Italy
- Male
- Membrane Proteins