To the Editor: Hemochromatosis is an autosomal recessive disorder of iron metabolism affecting 0.2%– 0.5% of white populations. Approximately 90% of affected individuals are homozygous for the C282Y mutation, but the H63D and S65C mutations are also of interest. Various molecular diagnostic methods for detection of these mutations have been described, including a multiplex PCR from Stott et al....

BACKGROUND AND OBJECTIVE Iron overload has been associated with HFE mutations (C282Y and H63D). We investigated the association between these mutations and high serum ferritin in a sample of healthy adult men. DESIGN AND METHODS We enrolled unrelated blood donors from three hospitals in Mexico City in a crosssectional study. Serum ferritin (SF) was determined to define iron overload, and HFE ...

OBJECTIVES To determine the frequency of hereditary hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood donors originating from a Central region of Spain, to provide epidemiological data about HFE gene in the Iberian Peninsula. METHODS DNA extracted from blood samples was analyzed by PCR-RFLP. Restriction enzymes were Snab I and Bcl I for C282Y and H63D, respectively....

To the Editor: Hemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. In the United Kingdom, more than 90% of patients with hereditary hemochromatosis are homozygous for the C282Y mutation of the HFE gene, but other single-nucleotide polymorphisms (SNPs) within the HFE gene, namely H63D and S65C, have also been associated with the hemochromatosis phenotype. Various...

The frequencies of C282Y and H63D mutations of the HFE gene vary between different populations. A previous study showed an unexpectedly high H63D frequency in Chuetas (a population of Jewish descent). The present study addressed the question of the distribution of these mutations in Jewish populations from different origins and studied the possible causes of the high H63D frequency in Chuetas. ...

INTRODUCTION Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein. It is genetic disorder of iron metabolism, leading to iron accumulation and increased liver fibrosis. The association between alcoholic liver disease (ALD) and HFE gene mutations remains unclear and requires clarification. OBJECTIVES The aim of the stud...

CONTEXT AND OBJECTIVE Hemochromatosis is a common inherited disorder of iron metabolism and one of the most important causes of iron overload. The objective was to analyze the presence of C282Y, H63D and S65C mutations in the HFE gene and HLA-A alleles for a group of Brazilian patients with iron overload, and to correlate genotype with clinical and laboratory variables. DESIGN AND SETTING Pro...

Mutation analysis was performed for two HFE mutations (C282Y, H63D) in unrelated patients with hereditary haemochromatosis (n = 92), family members of patients (n = 34), and unrelated controls (n = 157) from Northern Germany, 87/92 patients (94.6%) revealed the C282Y mutation in homozygous form, five were heterozygous. No H63D mutation was found in 174 chromosomes of patients homozygous for C28...

OBJECTIVE To determine the frequency of mutations (C282Y and H63D) in a newly identified gene HFE in patients with hereditary haemochromatosis (HH) in Sweden. DESIGN Molecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects. SETTINGS...

The human hemochromatosis protein HFE is encoded by the gene and participates in iron regulation. aim of this study was to detect most frequent mutations a control population β-thalassemia trait (BTT) carriers, their relationship with metabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, (Fe), total Fe binding capacity ferritin were assayed. analyzed rea...