Clinical Chemistry AACC Online Job Center
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 47: 1804-1810, 2001;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (15)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Koziol, J. A.
Right arrow Articles by Beutler, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Koziol, J. A.
Right arrow Articles by Beutler, E.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Hematology
(Clinical Chemistry. 2001;47:1804-1810.)
© 2001 American Association for Clinical Chemistry, Inc.

Articles

Reference Centiles for Serum Ferritin and Percentage of Transferrin Saturation, with Application to Mutations of the HFE Gene

James A. Koziol1a, Ngoc J. Ho1, Vincent J. Felitti2 and Ernest Beutler1

1 The Scripps Research Institute, La Jolla, CA 92037.

2 Kaiser Permanente, San Diego, CA 92111.

a*Address correspondence to this author at: Department of Molecular and Experimental Medicine, MEM216, The Scripps Research Institute, 10550 N. Torrey Pines Rd., La Jolla, CA 92037. Fax 858-554-2252; e-mail koziol{at}scripps.edu.

Background: The gene that causes most cases of hereditary hemochromatosis is designated HFE. Individuals with mutations in the HFE gene may have increased serum iron, transferrin saturation, and ferritin concentrations relative to individuals with the wild-type genotype.

Methods: We generated reference centiles for percentage of transferrin saturation and serum ferritin concentrations in normal (wild-type), healthy Caucasian adults. We then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C282Y and 438 individuals with the compound heterozygous HFE genotype C282Y/H63D.

Results: Serum ferritin concentrations, but not percentage of transferrin saturation, in normal, healthy women tended to increase sharply as they progressed through menopause. Transferrin and serum ferritin centiles for normal, healthy females were lower than the corresponding centiles in normal, healthy males. C282Y homozygotes had abnormally high transferrin saturation and serum ferritin values relative to the wild types. Compound heterozygotes appeared to be a mixture of individuals with unexceptional transferrin and ferritin values and those with abnormally large values similar to the homozygotes, with equal proportions of each.

Conclusions: There are age- and sex-related differences in reference centiles for the percentage of transferrin saturation and serum ferritin concentrations in normal, healthy adults. Individuals homozygous for the C282Y mutation in the HFE gene have abnormal transferrin saturation and serum ferritin values relative to the reference population; penetrance with the compound heterozygotes, as reflected by abnormal transferrin and ferritin values, is less than with the homozygotes.




The following articles in journals at HighWire Press have cited this article:


Home page
 Am. J. Clin. Nutr.Home page
J. R Hunt and H. Zeng
Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis
Am. J. Clinical Nutrition, October 1, 2004; 80(4): 924 - 931.
[Abstract] [Full Text] [PDF]

Home page
 Arch Intern MedHome page
A. R. Hover, S. M. McDonnell, and W. Burke
Changing the Clinical Management of Hereditary Hemochromatosis: Translating Screening and Early Case Detection Strategies Into Clinical Practice
Arch Intern Med, May 10, 2004; 164(9): 957 - 961.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
S. Tomatsu, K. O. Orii, R. E. Fleming, C. C. Holden, A. Waheed, R. S. Britton, M. A. Gutierrez, S. Velez-Castrillon, B. R. Bacon, and W. S. Sly
Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis
PNAS, December 23, 2003; 100(26): 15788 - 15793.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Clin. Nutr.Home page
J.-M. Liu, S. E Hankinson, M. J Stampfer, N. Rifai, W. C Willett, and J. Ma
Body iron stores and their determinants in healthy postmenopausal US women
Am. J. Clinical Nutrition, December 1, 2003; 78(6): 1160 - 1167.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
H. Van Vlierberghe and J. Delanghe
Haptoglobin Polymorphism and Iron Hemostasis
Clin. Chem., April 1, 2003; 49(4): 708 - 709.
[Full Text] [PDF]

Home page
 BloodHome page
F. M. Torti and S. V. Torti
Regulation of ferritin genes and protein
Blood, May 15, 2002; 99(10): 3505 - 3516.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2001 by the American Association for Clinical Chemistry.