“…Liver biopsy frequently shows siderosis and transferrin saturation, and the serum iron and ferritin concentrations are commonly increased. Hepatic hepcidin (HAMP) expression was reduced in patients with PC independently of their HFE genotype, when compared to patients with hereditary hemochromatosis and a comparable iron overload but without PC [37]. However, in another study, serum hepcidin levels were increased in a series of thirty PC patients [38].…”
Section: Precipitating Factorsmentioning
confidence: 89%
“…5C). C282Y homozygosity, conferring the highest risk, is present in 20% of PC [36,37]. Liver biopsy frequently shows siderosis and transferrin saturation, and the serum iron and ferritin concentrations are commonly increased.…”
“…Liver biopsy frequently shows siderosis and transferrin saturation, and the serum iron and ferritin concentrations are commonly increased. Hepatic hepcidin (HAMP) expression was reduced in patients with PC independently of their HFE genotype, when compared to patients with hereditary hemochromatosis and a comparable iron overload but without PC [37]. However, in another study, serum hepcidin levels were increased in a series of thirty PC patients [38].…”
Section: Precipitating Factorsmentioning
confidence: 89%
“…5C). C282Y homozygosity, conferring the highest risk, is present in 20% of PC [36,37]. Liver biopsy frequently shows siderosis and transferrin saturation, and the serum iron and ferritin concentrations are commonly increased.…”
“…This heterozygous mutation was also found in one patient in a series of 96 PCT patients reported by Ajioka et al, (14) resulting in an alíele frequency of 0.5%. However, ferritin levels were normal at the time of diagnosis in these two patients.…”
“…Phlebotomy protocols similar to those applied to hemochromatosis control the skin and liver complications. Mutations of HFE are found with increased prevalence in patients with PCT and hepcidin levels have been found to be decreased [34].…”
Iron is essential for life, because it is indispensable for several biological reactions such as oxygen transport, DNA synthesis and cell proliferation, but is toxic if present in excess since it causes cellular damage through free radical formation. Either cellular or systemic iron regulation can be disrupted in disorders of iron metabolism. In the past few years, our understanding of iron metabolism and its regulation has dramatically changed. New disorders of iron metabolism have emerged and the role of iron has started to be recognized as a cofactor of other disorders. The study of genetic conditions such as hemochromatosis and iron-refractory-iron-deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited for a more effective treatment of both genetic and acquired iron disorders.
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