Defective Bone Morphogenic Protein Signaling Underlies Hepcidin Deficiency in HFE Hereditary Hemochromatosis

Abstract excerpt

UNLABELLED: Hereditary hemochromatosis (HH) is a common inherited iron overload disorder. The vast majority of patients carry the missense Cys282Tyr mutation of the HFE gene. Hepcidin, the central regulator of iron homeostasis, is deficient in HH, leading to unchecked iron absorption and subsequent iron overload. The bone morphogenic protein (BMP)/small mothers against decapentaplegic (Smad) signaling cascade is...

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