HFE-related hereditary haemochromatosis is the most common autosomal recessive disorder in the Caucasian population. In 1996 the responsible gene (called HFE) was identified. Two mutations (C282Y and H63D) are considered most important and occur frequently in the Caucasian population. We describe a family of an affected proband in which first- and second-degree relatives were tested phenotypica...

Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this...

Cirrhosis of liver is one of the common clinical conditions encountered in gastroenterology and hepatology practice, and is associated with significant morbidity and mortality. A varied etiology of the condition necessitates detailed history taking, thorough clinical examination as well as a set of laboratory investigations for confirmation. An uncommon etiology of cirrhosis is primary iron ove...

BACKGROUND Previous studies found effect modification of associations between traffic-related air pollution and cardiovascular outcomes by polymorphisms in the hemochromatosis gene (HFE). As traffic-related air pollution may impact cognition through effects on cardiovascular health or through mechanisms which may also influence cardiovascular outcomes, we hypothesized that HFE polymorphisms wou...

The hypochromic red cell: a new parameter for monitoring of iron supplementa-tion during rhEPO therapy. Detection of functional iron-deficiency during erythropoietin treatment a new approach. Br Med J 1992; 304:225-6. 5. Salmon Ceron D, Fontbonne A, Saba J. Lower survival in AIDS patients receiving dapsone compared with aerolized pentamidine for secondary prophylaxis of pneumocystis carinii pne...

In Western countries, HFE-linked hereditary hemo-chromatosis (HH) is considered to be the most common cause of iron overload. The HFE gene, first identified in 1996, is located on the short arm of chromosome 6. The majority of patients with phenotypic HH are homozy-gous for the C282Y mutation, a major mutation of the HFE gene, whereas compound heterozygosity (C282Y/ H63D) is found in patients w...

I read with the interest the paper by Jowkar et al. published in a recent issue of Hepatitis Monthly (1). The authors analysed the frequency of two HFE gene mutations in Iranian patients with a diagnosis of cryptogenic cirrhosis. In Europe, North America and Australia the homozygous C282Y mutation of the HFE gene is a major etiological factor associated with the pathogenesis of progressive iron...

I n the last few years there have been major advances in our understanding of the molecular control of cellular iron metabolism and of molecular genetics of disorders characterized by abnormal iron absorption. A fundamental step has been the cloning of HFE, the gene of HLA-related genetic hemochromatosis. 1 HFE is an atypical HLA-class I-like gene, mapping approximately 4 Megabases telomeric to...

BACKGROUND Given the relationship between iron metabolism and lead toxicokinetics, we hypothesized that polymorphisms in iron metabolism genes might modify maternal-fetal lead transfer. The objective of this study was to determine whether maternal and/or infant transferrin (TF) and hemochromatosis (HFE) gene missense variants modify the association between maternal blood lead (MBL) and umbilica...