Non-HFE hemochromatosis

With the identification of the HFE gene in 1996, the majority of cases of hereditary hemochromatosis (HH) or type 1 HH were found to be associated with homozygosity for a mutation leading to a cysteine to tyrosine substitution (C282Y) in the HFE protein. Hemochromatosis due to mutations in the HFE gene is the subject of Chap. 19 and is discussed in more detail there. Hemochromatosis that is not associated with mutations in HFE is termed non-HFE hemochromatosis.