What is hereditary hemochromatosis?

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Hereditary hemochromatosis is an adult-onset disorder that represents an error of iron metabolism characterized by inappropriately high iron absorption resulting in progressive iron overload. [1] This disease is the most common cause of severe iron overload. [3] The organs involved are the liver, heart, pancreas, pituitary, joints, and skin. [12]

Mutations in least 5 different genes (HFE, HJV, TFR2, SLC40A1, HAMP) in hereditary hemachromatosis have been recognized as being involved in hepcidin production/activity, which may disrupt regulation of systemic iron homeostasis. [13]  Relatively recent studies suggest that newly identified heterozygous missense pro-peptide mutations in bone morphogenetic protein 6 (BMP6), which affects upregulation of hepcidin gene transcription, may contribute ot late-onset moderate iron overload in patients with hereditary hemochromatosis. [13]

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