Article
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.
Annals of hematology - 1 Oct 2009
Altès Albert, Bach Vanessa, Ruiz Angels, Esteve Anna, Felez Jordi, Remacha Angel F, Sardà M Pilar, Baiget Montserrat
Abstract excerpt
Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. Nevertheless, penetrance of the disease is very variable. In some patients, penetrance can be mediated by concomitant mutations in other iron master genes. We evaluated the clinical impact of hepcidin (HAMP) and hemojuvelin mutations in a cohort of 100 Spanish patients homozygous for the C282Y mutation of the HFE...
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