title: Measurement of iron and zinc isotopes in human whole blood: preliminary application to the study of HFE genotypes.
abstract: Multi-collector inductively coupled plasma--sector field mass spectrometry was applied to the measurement of Fe and Zn isotopes in human whole blood samples. For the Fe present in the blood of healthy adults, enrichment of the lighter isotopes relative to a standard material was observed, in agreement with earlier studies. The level of fractionation was found to be lower in hemochromatosis patients exhibiting homozygous (C282Y/C282Y) mutation of the HFE gene. On the one hand, this reinforces the hypothesis that Fe fractionation in blood decreases with enhanced dietary absorption. On the other hand, this contradicts predictions made on the basis of determinations of Fe fractionation in blood samples collected from subjects characterized by milder HFE mutations. In healthy subjects, the Zn in blood is depleted in lighter isotopes, consistent with the limited number of prior observations. As for Fe, the Zn isotopic composition exhibited a tendency toward lower levels of fractionation in the blood of subjects with hereditary hemochromatosis with homozygous mutation (C282Y/C282Y) of the HFE gene. The results therefore suggest that both Fe and Zn isotopic signatures in whole blood, at least to some extent, reflect polymorphisms in the HFE gene.
authors.affiliation: Division of Applied Geology, Luleå University of Technology, S-971 87 Luleå, Sweden.
authors.forename: Anna
authors.initials: A
authors.lastname: Stenberg
authors.forename: Dmitry
authors.initials: D
authors.lastname: Malinovsky
authors.forename: Björn
authors.initials: B
authors.lastname: Ohlander
authors.forename: Henrik
authors.initials: H
authors.lastname: Andrén
authors.forename: Willis
authors.initials: W
authors.lastname: Forsling
authors.forename: Lena-Maria
authors.initials: LM
authors.lastname: Engström
authors.forename: Anders
authors.initials: A
authors.lastname: Wahlin
authors.forename: Emma
authors.initials: E
authors.lastname: Engström
authors.forename: Ilia
authors.initials: I
authors.lastname: Rodushkin
authors.forename: Douglas C
authors.initials: DC
authors.lastname: Baxter
mesh_terms: D000328:Adult; D005838:Genotype; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000097:blood / Q000235:genetics; D006801:Humans; D007503:Iron Isotopes / Q000097:blood / Q000737:chemistry; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics; D015033:Zinc Isotopes / Q000097:blood / Q000737:chemistry
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D007503:Iron Isotopes; D008565:Membrane Proteins; D015033:Zinc Isotopes