Homozygous deletion of HFE: the Sardinian hemochromatosis?

S Pelucchi, R Mariani, F Bertola… - Blood, The Journal …, 2009 - ashpublications.org
Type 1 hemochromatosis is generally due to homozygous p. C282Y mutation in HFE. 1, 2
We report the case of a young woman with a classical hemochromatosis phenotype due to a …

Distribution of HFE gene mutations in Slovenian patients with hereditary hemochromatosis

S Stepec, J Makuc, S Markovic, I Medica… - Annals of Hematology, 2008 - Springer
Dear Editor, Hereditary hemochromatosis (HH; HFE-related or type 1 genetic
hemochromatosis) is a common autosomal recessive disorder of iron metabolism, its …

HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

P Saliou, G Le Gac, MC Mérour, C Tripogney… - Annals of …, 2015 - Springer
Dear Editor, Here, we report the results of a study focused on the role of an iron-rich diet on
the phenotypic expression of HFE hemochromatosis in a cohort of 222 C282Y/C282Y …

Genotype–phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene

AF Remacha, MP Sardà, MJ Barceló, V Bach… - Annals of …, 2006 - Springer
Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism
with excessive cellular iron levels resulting in tissue damage [1–3]. In 1996, Feder et al …

Analysis of C282Y and H63D mutations of the hemochromatosis gene (HFE) in blood donors from Córdoba, Argentina

NW Soria, S Cossy Isasi, MR Chaig… - Annals of …, 2009 - Springer
Dear Editor, Hereditary hemochromatosis (HH) is an autosomal recessive disease,
characterized by an increase in the intestinal absorption of iron. It is one of the most common …

Clinical consequences of iron overload in hemochromatosis homozygotes

RS Ajioka, JP Kushner - Blood, The Journal of the American …, 2003 - ashpublications.org
Hereditary hemochromatosis is an autosomal recessive disorder characterized by
hyperabsorption of dietary iron and accelerated recycling of iron by macrophages …

Incidence of the HFE gene mutations in a cohort of non-Spanish origin neonates in Madrid

P Ropero, L Llorente, FA González, O Briceño… - Annals of …, 2007 - Springer
Dear Editor, Hereditary Hemochromatosis (HH) is a potentially serious disease due to the
build up of iron excess and attendant cells damage in several organs [4] that issues from the …

Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample

E Vizzi, CL Loureiro, M Gerder… - Annals of …, 2005 - Springer
The frequency of the C282Y, H63D and S65C alleles of the HFE gene was determined in a
sample of the Venezuelan population. Two new sets of primers were tested for amplifying …

HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers

SH Elsea, V Leykam - Blood, The Journal of the American …, 2000 - ashpublications.org
Mutations in the HFE gene are responsible for more than 90% of the cases of hereditary
hemochromatosis in the Caucasian population. 1-3 Three mutations have been reported to …

HFE-related hemochromatosis risk mutations in Latvian population

R Peculis, B Lace, A Putnina, L Nikitina-Zake… - Annals of …, 2015 - Springer
Dear Editor, HFE-related hemochromatosis (HH) is an autosomal recessive, multisystemic
disease caused by up regulated iron uptake and accumulation [1]. HH is most common in …