Abstract
Hemochromatosis is an autosomal recessive disorder that often results in accumulation of excessive amounts of storage iron in parenchymal organs. 1-14 The end-stage of the disease in individuals who are homozygous for the HLA-linked hemochromatosis allele is characterized by massive iron overload associated with organ damage. The frequency of homozygosity for hemochromatosis in some populations, including the U.S. Caucasian population, is estimated to be about 5 per 1000. 15 Massive iron overload, however, with multiple organ failure occurs less frequently. 15-21 The disparity between the frequency of the homozygous genotype and the observed frequency of massive iron over-load is due in part to physiologic iron loss in women, and may be due to variable penetrance of the clinical phenotype in homozygotes of both sexes. 15,20
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Edwards, C.Q., Griffen, L.M., Kushner, J.P. (1994). The Morbidity of Hemochromatosis among Clinically Unselected Homozygotes: Preliminary Report. In: Hershko, C., Konijn, A.M., Aisen, P. (eds) Progress in Iron Research. Advances in Experimental Medicine and Biology, vol 356. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2554-7_32
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DOI: https://doi.org/10.1007/978-1-4615-2554-7_32
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