Iron clad: iron homeostasis and the diagnosis of hereditary iron overload

Abstract

Iron is an ubiquitous metal of vital importance to the normal physiologic processes of many organisms. Over the last 2 decades, the discovery of mutations in genes leading to hereditary disorders of iron overload, iron deficiency, and iron maldistribution have accelerated our understanding of human iron homeostasis. This chapter provides an updated overview of the human iron cycle, regulation of iron homeostasis, and how perturbations in these homeostatic mechanisms lead to iron overload disease and provides strategies for the diagnosis of hereditary iron overload.