Hemochromatosis

Reports outline hemochromatosis study results from Medical University of Gdansk

Published in Blood Weekly, July 12th, 2007

New research, "Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney," is the subject of a report. "Iron-overload diseases are associated with primary or secondary disturbances of iron metabolism. Hereditary hemochromatosis, a genetically heterogeneous disease that is characterized by increased iron absorption and progressive deposition in parenchymal cells, may lead to organ damage and failure," researchers in Gdansk, Poland report.

"Molecular studies have shown that hemochromatosis type 1 is predominantly due to a mutation in the HFE gene; there are 2 major mutations (C282Y and H63D). Disease symptoms are...

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Source: Blood Weekly (2007-07-12)

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