Hereditary hemochromatosis (HH) is a genetic iron overload disease, in the majority of cases associated with homozygosity for the C282Y mutation of the HFE gene. In spite of this genetic homogeneity, there is a great clinical heterogeneity among HH patients. Low CD8(+) lymphocyte numbers have been associated with a more severe expression of iron overload in HH patients, and in experimental mode...

OBJECTIVE To examine the role of hemochromatosis (HFE) gene mutations, which are associated with porphyria cutanea tarda (PCT), in the therapeutic response to chloroquine. DESIGN We retrospectively analyzed a database (Excel version 2001 [Microsoft Excel, Redmond, Wash]; date range of search, 1985-1999) of chloroquine-treated patients with PCT on whether HFE mutations (C282Y and H63D) might h...

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—Haemochromatosis is a common genetic disease leading to iron overload. Although the gene had been identified (HFE), the pathogenesis had not been fully elucidated. The inadvertent transplant of a C282Y homozygous liver and intestine provided a unique opportunity to study this problem. Methods—A 19 year old man underwent orthotopic liver and intestinal transplantation in January 1997 ...

Iron overload is frequently associated with hereditary or secondary alterations of iron metabolism.1,2 Hereditary hemochromatosis (HH), the most common genetic disease among northern European populations, is an autosomal recessive disorder characterized by an enhanced gastrointestinal absorption of iron that leads to progressive increase of iron stores and, eventually, to multiple organ dysfunc...

BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body. To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia. In 1994, we obtained blood ...

T he incidence of cardiovascular disease increases progressively with age in men and is more common in younger men than in women of similar age. The difference in incidence of cardiovascular disease between the sexes diminishes in the elderly, as the incidence of female cardiovascular disease increases with age in post-menopausal females. This pattern coincides with that of iron stores; in men ...

OBJECTIVES To determine the value of screening patients with inflammatory arthritis for haemochromatosis-associated mutations in the HFE gene. METHODS We screened 1000 patients with inflammatory arthritis and 1000 controls for the HFE gene mutations that are associated with haemochromatosis. The arthritis patients were diagnosed between 1989 and 1995 and their blood DNA was archived as part o...

BACKGROUND Cumulative lead exposure is associated with a widened pulse pressure (PP; the -difference between systolic and diastolic blood pressure), a marker of arterial stiffness and a predictor of cardiovascular disease. Polymorphisms in the hemochromatosis gene (HFE) have been shown to modify the impact of cumulative lead exposure on measures of adult cognition and cardiac function. OBJECT...