Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a
reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

In the late 1800s, hemochromatosis was considered an odd autoptic finding. More than a
century later, it was finally recognized as a hereditary, multi-organ disorder associated with a …

Iron is an essential nutrient with limited bioavailability. When present in excess, iron poses a
threat to cells and tissues, and therefore iron homeostasis has to be tightly controlled. Iron's …

Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity
but with a final common metabolic pathway resulting in inappropriately low production of the …

Oh what a difference a decade makes! In a landmark paper published in 1996, Feder and
colleagues identified the long-sought gene mutated in patients with classical hereditary …

Hepcidin is the principal iron-regulatory hormone. It acts by binding to the iron exporter
ferroportin, inducing its internalization and degradation, thereby blocking cellular iron efflux …

The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research
and discoveries in the iron field have dramatically changed our understanding of human …

Hepcidin, a peptide hormone produced by hepatocytes, is the central regulator of systemic
iron homeostasis through its interaction with ferroportin, the major cellular iron export …

The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical
and pathologic manifestations of hemochromatosis were reported. Linked to the major …