Abstract
Genetic hemochromatosis is an autosomal recessive disorder in which an inappropriate increase in the absorption of dietary iron is associated with accumulation of this metal within liver cells and in other sites of the body (1). The gene for hemochromatosis has been localized by genetic linkage to the histocompatibility leukocyte antigen (HLA) locus (2–4) on chromosome 6. The genetic mutation that gave rise to hemochromatosis seems to originate in a Celtic individual (5). Genetic and population screening studies indicate that the disease occurs in about 1 in 300 of the Caucasian population (5). A candidate gene for hemochromatosis has only recently been identified with the predicted gene product, MHC-H, being a protein that bears resemblance to other major histocompatability (MHC) proteins (6).
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Schilsky, M.L., Sternlieb, I. (1998). Genetic Hemochromatosis. In: Wu, G.Y., Israel, J. (eds) Diseases of the Liver and Bile Ducts. Current Clinical Practice. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-4612-1808-1_18
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DOI: https://doi.org/10.1007/978-1-4612-1808-1_18
Publisher Name: Humana Press, Totowa, NJ
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