Iron overload disorders represent a variety of conditions that lead to increased total body
iron stores and resultant end‐organ damage. An elevated ferritin and transferrin‐iron …

Background & Aims: Two mutations have been described in the HFE gene: C282Y and
H63D. The aim of this study was to determine the phenotype of the different HFE genotypes …

Iron can accumulate in the liver in a variety of conditions, including congenital, systemic iron-
loading conditions (hereditary hemochromatosis), conditions associated with systemic …

Numerous clinical entities have now been identified to cause pathologic iron accumulation
in the liver. Some are well described and have a verified hereditary basis; in others the …

In populations of northern European descent, the p. C282Y mutation in the HFE gene is
highly prevalent, and HFE-associated hereditary hemochromatosis is the most common type …

Following the discovery of the HFE gene in 1996 and its linkage to the iron overload
disorder hereditary hemochromatosis (HH) there have been profound developments in our …

Background and aims: The role of the HFE S65C mutation in the development of hepatic
iron overload is unknown. The aim of the present study was:(A) to determine the HFE S65C …

OBJECTIVE: Hepatic iron overload is observed in many forms of chronic liver disease.
Hereditary hemochromatosis (HH) results in hepatic iron overload and is associated with 2 …

Hemochromatosis comprises a group of inherited disorders resulting from mutations of
genes involved in regulating iron metabolism. The multicenter, multi-ethnic …

Because of a greater understanding of the genetic factors causing HH, there is an earlier
recognition and diagnosis of patients with HH. The clinical phenotype of iron overload …