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Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)

24 Nov 2003

Abstract excerpt

Juvenile or type 2 hemochromatosis (JH) is a genetic disease caused by increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (HEPC). Hepcidin is a...

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PMID: 14630809
DOI: 10.1182/blood-2003-10-3390

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