Most cells in the body acquire iron via receptor-mediated endocytosis of transferrin, the
circulating iron transport protein. When cellular iron levels are sufficient, the uptake of …

Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive
disorder which causes iron overload at a young age, affects both sexes equally and is …

Hepcidin, a 25-amino-acid antimicrobial peptide, is the central regulator of iron homeostasis.
Hepcidin transcription is upregulated by inflammatory cytokines, iron, and bone …

Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to
severe iron overload and organ damage typically before age 30 years. Linkage to a locus on …

Background & Aims: Juvenile hemochromatosis is a severe form of hereditary iron overload
that has thus far been linked to pathogenic mutations of the gene coding for hemojuvelin …

The term 'hemochromatosis' refers to an autoso-mal recessive disorder of iron metabolism
associated with two mutant alleles of the HFE gene (usually leading to a Cys282Tyr …

The clinical progression of HFE-related hereditary hemochromatosis (HH) and its
phenotypic variability has been well studied. Less is known about the natural history of non …

Numerous clinical entities have now been identified to cause pathologic iron accumulation
in the liver. Some are well described and have a verified hereditary basis; in others the …

Sexual differentiation is the result of complex genetic and endocrine mechanisms that are
closely associated with the development of both the genitourinary system and the adrenal …

Juvenile hemochromatosis or type 2 hemochromatosis is a rare inherited recessive disease,
which leads to severe iron overload earlier in life than HFE-related hemochromatosis …