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Previous Volume 350:2383-2397 June 3, 2004 Number 23 Next

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For much of the 20th century, hereditary hemochromatosis was regarded as a clinically and genetically unique entity. The classic findings on presentation — diabetes, bronze pigmentation of the skin, and cirrhosis — were first described in the 19th century, when the term "hemochromatosis" was first used^1,2,3; by 1935 it had become clear that the disease was hereditary and was caused by excess deposits of iron in the tissue.⁴ In the 1970s and 1980s, it was recognized as an autosomal recessive disorder linked to the region of the short arm of chromosome 6 encoding HLA-A*3 ,^5,6 and in 1996 "the . . . [Full Text of this Article]

Phenotypic and Genetic Features

Classic Hereditary Hemochromatosis

Genetic and Phenotypic Variations

The Genetic Cast: Major Players and Supporting Actors

Pathophysiology

Pathogenetic Models of HFE-Related Hereditary Hemochromatosis

Hepcidin: The Key Player in All Forms of Hereditary Hemochromatosis?

Diagnosis, Management, and Screening

Other Hereditary Iron-Overload Disorders

Conclusions

Source Information

From the Center for Hemochromatosis and Hereditary Liver Diseases, Department of Internal Medicine, University of Modena and Reggio Emilia Policlinico, Modena, Italy.

Address reprint requests to Dr. Pietrangelo at the Department of Medicine, University of Modena, Via del Pozzo 71, 41100 Modena, Italy, or at pietrangelo.antonello@unimore.it.

Related Letters:

Hereditary Hemochromatosis
Castiella A., Alustiza J. M., Artetxe J., Pietrangelo A.
Extract | Full Text | PDF  
N Engl J Med 2004; 351:1263-1264, Sep 16, 2004. Correspondence

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