Article
HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania.
Journal of gastrointestinal and liver diseases : JGLD - 1 Jun 2012
Trifa Adrian P, Popp Radu A, Militaru Mariela S, Farcaş Marius F, Crişan Tania O, Gana Ionuţ, Cucuianu Andrei, Pop Ioan V
Abstract excerpt
BACKGROUND AND AIMS: HFE-associated haemochromatosis is one of the most frequent autosomal recessive disorders in the Caucasian population. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. This study was a first attempt to evaluate the distribution of these HFE gene mutations in...
Topics
- Adolescent
- Adult
- Female
- Gene Frequency
- Genotype
- Hemochromatosis
- Hemochromatosis Protein
- Heterozygote
- Histocompatibility Antigens Class I
- Humans
- Male