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Article

HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis.

Genes - 28 Jul 2021

Sandnes Miriam, Vorland Marta, Ulvik Rune J, Reikvam Håkon

Abstract excerpt

HFE hemochromatosis is characterized by increased iron absorption and iron overload due to variants of the iron-regulating HFE gene. Overt disease is mainly associated with homozygosity for the C282Y variant, although the H63D variant in compound heterozygosity with C282Y (C282Y/H63D) contributes to disease manifestation. In this observational study, we describe the association between biochemical findings, age,...

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Identifiers

PMID: 34440336
DOI: 10.3390/genes12081162
PMCID: PMC8394043

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