Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study

James C. Barton, R. T. Acton, L. Lovato, M. R. Speechley, C. E. McLaren, E. L. Harris, D. M. Reboussin, P. C. Adams, F. W. Dawkins, V. R. Gordeuk, A. P. Walker, Deborah Dixon, Susan Ferguson, Richard Jones, Jerry McKnight, Charles A. Rivers, Diane Tucker, Janice C. Ware, Gordon McLaren, Hoda Anton-CulverJo Ann A. Baca, Thomas C. Bent, Lance C. Brunner, Michael M. Dao, Korey S. Jorgensen, Julie Kuniyoshi, Huan D. Le, Miles K. Masatsugu, Frank L. Meyskens, David Morohashi, Huan P. Nguyen, Sophocles N. Panagon, Chi Phung, Virgil Raymundo, Thomas Ton, Lari B. Wenzel, Argyrios Ziogas, Erin Bloch, Subrata Chakrabarti, Arlene Fleischhauer, Helen Harrison, Bonnie Hogan, Kelly Jia, John Jordan, Sheila Larson, Edward Lin, Melissa Lopez, Godfrey Moses, John H. Eckfeldt, Michael Y. Tsai

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

We compared initial screening transferrin saturation (TfSat) and serum ferritin (SF) phenotypes and HFE C282Y and H63D genotypes of 645 Native American and 43,453 white Hemochromatosis and Iron Overload Screening Study participants who did not report a previous diagnosis of hemochromatosis or iron overload. Elevated measurements were defined as TfSat >50% in men and >45% in women and SF>300 ng/ml in men and >200 ng/ml in women. Mean TfSat was 31% in Native American men and 32% in white men (p = 0.0337) and 25% in Native American women and 27% in white women (p < 0.0001). Mean SF was 153 mg/l in Native American and 151 μ/l in white men (p = 0.8256); mean SF was 55 μ/l in Native American women and 63 μ/l in white women (p = 0.0015). The C282Y allele frequency was 0.0340 in Native Americans and 0.0683 in whites (p < 0.0001). The H63D allele frequency was 0.1150 in Native Americans and 0.1532 in whites (p = 0.0001). We conclude that the screening TfSat and SF phenotypes of Native Americans are similar to those of whites. The allele frequencies of HFE C282Y and H63D are significantly lower in Native Americans than in whites.

Original languageEnglish (US)
Pages (from-to)48-57
Number of pages10
JournalClinical Genetics
Volume69
Issue number1
DOIs
StatePublished - Jan 2006

Keywords

  • Ferritin
  • HFE
  • Hemochromatosis
  • Iron overload
  • Transferrin saturation

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