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 Blood, 1 October 2004, Vol. 104, No. 7, pp. 2181-2183.
Prepublished online as a Blood First Edition Paper on June 15, 2004; DOI 10.1182/blood-2004-01-0332.

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RED CELLS
Brief report

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene

Thomas Matthes, Patricia Aguilar-Martinez, Loredana Pizzi-Bosman, Régis Darbellay, Laura Rubbia-Brandt, Emilio Giostra, Martine Michel, Tomas Ganz, and Photis Beris

From the Division of Hematology, University Hospital, Geneva, Switzerland; the Hematology Laboratory, Centre Hospitalier Universitaire, Montpellier, France; the Division of Clinical Pathology, University Hospital Geneva, Switzerland; the Division of Gastroenterology, University Hospital Geneva, Switzerland; and the Department of Medicine, University of California, Los Angeles.

Juvenile hereditary hemochromatosis is a genetically heterogeneous disorder transmitted as an autosomal recessive trait. It is most often caused by mutations in the HJV gene and rarely in the HAMP gene. Hepcidin is considered to constitute a negative regulator of iron absorption, and its production is increased in inflammatory states and iron overload. We report the detection of a new mutation in the HAMP gene leading to juvenile hemochromatosis in 2 members of a Portuguese family. The mutation lies in the 5'-UTR (untranslated region) of the gene and creates a new initiation codon in the context of a Kozak sequence. We found no trace of hepcidin protein in the patients' urine, suggesting that ribosomes select the mutant initiation codon for translation. The decrease of hepcidin production would thus lead to increased iron absorption, resulting in iron deposition in parenchymal tissues. Phlebotomy therapy of the 2 patients resulted in impressive clinical improvement. (Blood. 2004;104: 2181-2183)


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