Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney.


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. Molecular studies have shown that hemochromatosis type 1 is… (More)