Article
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.
Einstein (Sao Paulo, Brazil) - 1 Jan 2000
Petroni Roberta Cardoso, Rosa Susana Elaine Alves da, Carvalho Flavia Pereira de, Santana Rúbia Anita Ferraz, Hyppolito Joyce Esteves, Nascimento Claudia Mac Donald Bley, Hamerschlak Nelson, Campregher Paulo Vidal
Abstract excerpt
Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus...
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