Hereditary hemochromatosis: update for 2003.

Hereditary hemochromatosis : update for 2003 Stephen

The term ‘hemochromatosis’ was first used by von Recklinghausen, a German pathologist in the late 1800s [1]; he determined that the pigmentation seen in patients with advanced hemochromatosis was due to iron. In 1935, Joseph Sheldon, a British geriatrician, published a monograph describing over 300 patients with hemochromatosis [2]. He concluded that the disorder was an inherited defect with al...

Iron is hot: an update on the pathophysiology of hemochromatosis.

GENETIC IRON OVERLOAD disorders are prevalent yet poorly understood. Over the past 3 years, the discoveries of the hereditary hemochromatosis gene and an intestinal iron transporter have significantly advanced our understanding of iron metabolism. Furthermore, they have suggested novel links between molecules involved in immune defense and iron homeostasis. These findings lay the foundation for...

Decreased Concentrations of Tumor Necrosis Factor-a in Supernatants of Monocytes From Homozygotes for Hereditary Hemochromatosis

To determine whether release of tumor necrosis factor-a (TNF-a), a cytokine that affects iron homeostasis, may be selectively altered in hereditary hemochromatosis, we measured concentrations of TNF-a and interleukin-ls (IL-ls) in supernatants of cultured peripheral blood monocytes from 11 homozygotes for hereditary hemochromatosis, 11 healthy individuals, and five patients with iron-loading an...

Use of denaturing HPLC and a heteroduplex generator to detect the HFE C282Y mutation associated with genetic hemochromatosis.

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.

It is not unusual for a disease to be considered rare when first described and to prove to be much more prevalent as the medical profession becomes aware of its existence. This seemed to be the case with hereditary hemochromatosis. But now the perception that hemochromatosis is a common disease has undergone a sudden reversal. Although everyone does not yet agree, the data that have accumulated...