HFE and hemochromatosis type 1: Hemochromatosis in persons of European descent is typically associated with homozygosity for p.C282Y (rs1800562), a common missense mutation of the homeostatic iron regulator (HFE, chromosome 6p22.2).1,2 HFE, a transmembrane glycoprotein, is an upstream regulator of the hepatic hormone hepcidin (HAMP, chromosome 19q13.12), the central regulator of iron homeostasis.3