Hereditary haemochromatosis (HH) is a disease related to mutations in the HFE gene and can lead to progressive iron accumulation, especially in the liver, eventually resulting in organ damage. We have developed guidelines for the diagnosis and treatment of this disease according to CBO methodology (dutch institute for Healthcare Quality). The prevalence of clinical symptoms such as fatigue, art...

BACKGROUND There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube ELISA-like PCR assay and evaluate it by detecting the common C282Y and H63D mutations found in the hemochromatosis gene (HFE) by use of clinical samples. METHODS The method, termed solid-phase amplification (SPA), involves dual liquid...

OBJECTIVE To investigate whether the genetic variants of CYP2D6 and HFE are more frequent in Parkinson's disease (PD) patients compared with controls in a population where the prevalence of these variants and PD are increased. METHODS Blood samples were collected from 79 PD patients and 154 controls in the Faroe Islands. Genotyping for the 'CYP2D6*3, *4, *6 and *9' alleles and for the C282Y a...

OBJECTIVES We studied the status of hepatic iron deposition and its relationship with blood iron indices, liver histology, and HFE gene mutations in Korean patients with chronic hepatitis C (CH-C). METHODS 105 patients with CH-C who underwent pretreatment liver biopsy were consecutively enrolled. The hepatic iron deposition, histological activity and fibrosis were assessed by appropriate path...

BACKGROUND Given mounting evidence for adverse effects from excess manganese exposure, it is critical to understand host factors, such as genetics, that affect manganese metabolism. METHODS Archived blood samples, collected from 332 Mexican women at delivery, were analyzed for manganese. We evaluated associations of manganese with functional variants in three candidate iron metabolism genes: ...

BACKGROUND Haemochromatosis is associated with mutations in the HFE gene but the significance of these mutations in the general population is unknown. AIMS To determine the frequency of HFE gene mutations in the general population, their effect on serum iron indexes, and their role in screening for haemochromatosis. METHODS Deoxyribonucleic acid (DNA) from 1064 randomly selected subjects wa...

293 Received December 26, 2011; revision accepted for publication March 27, 2012. doi: 10.1620/tjem.226.293 Correspondence: Gui-Qiang Wang, Department of Infectious Diseases, Center for Liver Diseases, Peking University First Hospital, No. 8, XiShiKu Street, XiCheng District, Beijing 100034, P.R. China. e-mail: [email protected], [email protected] The H63D Mutation of the Hemochromatosis...

the H63D and S65C Mutations in the HFE Hemochromatosis Gene Based on Opposite Melting Temperature Shifts, Maja Bollhalder, Catherine Mura, Olfert Landt, and Friedrich E. Maly ( Institute of Clinical Chemistry, University Hospital Zurich, Rämistrasse 100, CH-8091 Zürich, Switzerland; 2 Laboratoire de Génétique Moléculaire, INSERM CRI 96 07, CHU-UBO, 46 Rue Félix Le Dantec, Brest, France; 3 TIB M...

BACKGROUND Between 4% and 35% of hereditary hemochromatosis (HC) probands are C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently. We evaluated denaturing HPLC (DHPLC) for screening of the whole HFE coding region and further defined whether HC probands with an incomplete HFE genotype carry uncommon mutations. METH...

BACKGROUND Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. OBJECTIVES Investigation of porphyria cutanea tarda ass...