Abstract
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 all of the pathology caused by excess iron in involved tissues. In the mid-1970s, Simon and colleagues in northern France determined definitively that hereditary hemochromatosis (HH) was inherited as an autosomal recessive disorder linked to the short arm of chromosome 6 in the region of HLA-A3 [3]. Finally, in 1996, a team of molecular geneticists at a small biotechnology company called Mercator Genetics in California used a positional cloning technique to discover the gene responsible for HH [4]. It was first called HLA-H and was later renamed HFE. Since that important discovery, tremendous advances in our understanding of the pathophysiologic mechanisms that occur in HH have taken place; further, our ability to diagnose patients, screen families, and evaluate whole populations has been enhanced.
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