TY - CHAP M1 - Book, Section TI - Hemochromatosis A1 - Barton, James C. A2 - Boyiadzis, Michael M. A2 - Frame, James N. A2 - Kohler, David R. A2 - Fojo, Tito PY - 2016 T2 - Hematology-Oncology Therapy, 2e AB - Hemochromatosis is a heterogeneous group of heritable disorders that increase the risk of developing iron overload due to increased dietary absorption of iron. Most hemochromatosis is due to mutation(s) in genes that alter the expression, structure, or ferroportin binding of hepcidin, a liver polypeptide that is the central regulator of iron absorption. Deleterious mutations that cause hemochromatosis include those of the HFE, HJV, TFR2, HAMP, and SLC40A1 genes. A rare mutation in the iron-responsive element of the FTH1 gene caused hemochromatosis due to decreased ferritin heavy-chain ferroxidase activity. Because mechanisms to excrete iron are limited, some persons with hemochromatosis develop iron overload and consequent target organ injury SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - hemonc.mhmedical.com/content.aspx?aid=1128368469 ER -