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Genetic study reveals ferroportin 1 mutations in hemochromatosis type 4, suggesting reticuloendothelial iron sequestration drives pathology.
Hemochromatosis type 4 is an atypical hemochromatosis characterized by dominant inheritance, increased serum ferritin, normal transferrin saturation, and prevalent iron deposition in the reticuloendothelial (RE) cells rather than in hepatocytes. Heterozygous missense mutations of the iron export
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Roetto et al. (2002) studied this question.
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