
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led to rapid advances in the field of iron metabolism. Although the basic defect is still not fully understood, much is known about the sequence of events leading to iron overload.Hereditary hemochromatosis is a major candidate for population screening and meets the screening criteria of the World Health Organization, and Wilson and Jungner. It is one of the most prevalent genetic diseases in white populations, and, importantly, early diagnosis and simple effective treatment allow normal life expectancy.The discovery of theHFEgene and the frequency of the single C282Y mutation as a cause of most cases of hereditary hemochromatosis allow the possibility of widespread genetic testing. However, the logistics, and the psychological and social consequence of this, coupled with incomplete expression of the genotype, necessitate further studies before population screening can be justified.
EXPRESSION, IDIOPATHIC HEMOCHROMATOSIS, Genotype, Iron, HLA-H, RC799-869, Global Health, HOMOZYGOUS HEMOCHROMATOSIS, HLA Antigens, HEPATOCELLULAR-CARCINOMA, Humans, Point Mutation, iron metabolism, Hemochromatosis Protein, C4, 321008 Haematology, Incidence, Histocompatibility Antigens Class I, LONG-TERM SURVIVAL, Membrane Proteins, Diseases of the digestive system. Gastroenterology, Iron metabolism, hereditary hemochromatosis, Prognosis, GENETIC HEMOCHROMATOSIS, HEPATIC IRON, BLOOD-DONORS, DISCOVERY, Hereditary hemochromatosis, HFE, Hemochromatosis, 730103 Blood disorders
EXPRESSION, IDIOPATHIC HEMOCHROMATOSIS, Genotype, Iron, HLA-H, RC799-869, Global Health, HOMOZYGOUS HEMOCHROMATOSIS, HLA Antigens, HEPATOCELLULAR-CARCINOMA, Humans, Point Mutation, iron metabolism, Hemochromatosis Protein, C4, 321008 Haematology, Incidence, Histocompatibility Antigens Class I, LONG-TERM SURVIVAL, Membrane Proteins, Diseases of the digestive system. Gastroenterology, Iron metabolism, hereditary hemochromatosis, Prognosis, GENETIC HEMOCHROMATOSIS, HEPATIC IRON, BLOOD-DONORS, DISCOVERY, Hereditary hemochromatosis, HFE, Hemochromatosis, 730103 Blood disorders
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