George Papanikolaou

TL;DR: The positional cloning of the locus associated with juvenile hemochromatosis is reported and the identification of a new gene crucial to iron metabolism is identified, now called HFE2, whose protein product the authors call hemojuvelin.

TL;DR: Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals and two mutations in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis are identified.

TL;DR: Hepcidin was found to be suppressed in patients with thalassemia syndromes and congenital dyserythropoietic anemia type 1 and was undetectable in patientswith juvenile hemochromatosis with HAMP mutations, and urine hepcidin levels were significantly elevated in 2 patients with hemochROMatosis type 4.

TL;DR: It is concluded that hepcidin expression is regulated mainly by increased erythropoietic activity rather than by iron load and that hePCidin plays a central regulatory role in iron circulation and iron toxicity in patients with thalassemia major.

TL;DR: The results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis‐associated genes.