Article
Genetic haemochromatosis: genes and mutations associated with iron loading.
Best practice & research. Clinical haematology - 1 Jun 2002
Camaschella Clara, Roetto Antonella, De Gobbi Marco
Abstract excerpt
Haemochromatosis is an autosomal recessive disorder common among Caucasians that leads to iron overload. Molecular studies have shown that the disease is prevalently due to a mutation in the HFE gene. Although C282Y in the homozygous state remains the most common patient's genotype, other genes and genetic mutations are associated with haemochromatosis. Haemochromatosis type 2, a severe form with juvenile onset,...
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