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Clinical Chemistry 48: 2232-2235, 2002;
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(Clinical Chemistry. 2002;48:2232-2235.)
© 2002 American Association for Clinical Chemistry, Inc.

Haptoglobin Polymorphism and Iron Homeostasis

Ernest Beutler1a, Terri Gelbart1 and Pauline Lee1

1 The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Rd., La Jolla, CA 92037.

aAuthor for correspondence. Fax 858-784-2083.

Background: There is a marked difference in the degree of expression of the homozygous C282Y HFE genotype that is associated with hereditary hemochromatosis. It has been reported that individuals with the haptoglobin 2-2 type manifest increased iron concentrations, including serum iron, transferrin saturation, and ferritin.

Methods: We studied 232 patients, 115 homozygous for the c.845G->A (C282Y) mutation and 117 matched controls with the wild-type HFE genotype, for haptoglobin phenotypes. Haptoglobin types were determined by electrophoresis of the denatured protein. The HFE genotype was determined by allele-specific oligonucleotide hybridization. Ferritin and transferrin saturation were measured by standard methods.

Results:There was no relationship between haptoglobin type and ferritin concentration or transferrin saturation.

Conclusions: The effect of haptoglobin type on iron homeostasis cannot account for the marked phenotypic variation that is seen in patients homozygous for the HFE C282Y mutation.




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