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HFE gene and hemochromatosis
Author(s) -
Anderson GJ,
Ramm GA,
Subramaniam VN,
Powell LW
Publication year - 2004
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.0815-9319.2004.03499.x
Subject(s) - hereditary hemochromatosis , hemochromatosis , compound heterozygosity , loss of heterozygosity , population , genetics , medicine , penetrance , missense mutation , mutation , biology , gene , allele , phenotype , environmental health
Hereditary hemochromatosis (HH) is the most common inherited disorder of iron metabolism. It is characterized by elevated intestinal iron absorption and the progressive deposition of iron in tissues throughout the body, notably in the parenchymal cells of the liver, heart and pancreas