| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
Molecular Diagnostics and Genetics |
1
First Department of Internal Medicine, St. Johanns Spital, Muellner-Haupstrasse 48, 5020 Salzburg, Austria.
2
Institute of Biostatistics, University of
Innsbruck, 6020 Innsbruck, Austria.
3
Department of Laboratory Medicine, St. Johanns Spital,
5020 Salzburg, Austria.
a Author for correspondence. Fax 43-662-4482-881; e-mail b.paulweber{at}lkasbg.gv.at.
Genetic hemochromatosis (GH) is the most common autosomal-recessive disorder (1 in 300 in populations of Celtic origin). Homozygosity for a C282Y mutation in the hemochromatosis (HFE) gene is the underlying defect in ~80% of patients with GH, and 3.2–13% of Caucasians are heterozygous for this gene alteration. Because the high frequency of this mutation may result from a selection advantage, the hypothesis was tested that the C282Y mutation confers protection against iron deficiency in young women. To address this question the genotype of codon 282 was determined in a cohort of 468 unrelated female healthcare workers, ages 18–40 years. In all study participants, a complete blood count was obtained, and erythrocyte distribution width, serum iron, transferrin, transferrin saturation, and ferritin were measured. Two individuals were homozygous for the C282Y mutation, 44 were heterozygous, and 416 were homozygous for the wild-type allele. Heterozygous women had significantly higher values for hemoglobin (P = 0.006), serum iron (P = 0.013), and transferrin saturation (P = 0.006) than women homozygous for the wild-type allele. Our data provide evidence for a protective role of the C282Y mutation in the HFE gene against iron deficiency in young women and suggest that a more efficient utilization of nutritional iron may have contributed to the high prevalence of the mutation in Caucasian populations.
The following articles in journals at HighWire Press have cited this article:
|
|
 |
|
  S. K. Park, M. S. O'Neill, R. O. Wright, H. Hu, P. S. Vokonas, D. Sparrow, H. Suh, and J. Schwartz HFE Genotype, Particulate Air Pollution, and Heart Rate Variability: A Gene-Environment Interaction Circulation, December 19, 2006; 114(25): 2798 - 2805. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. W. Swinkels, M. C.H. Janssen, J. Bergmans, and J. J.M. Marx Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic Approaches Clin. Chem., June 1, 2006; 52(6): 950 - 968. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. P. Perl and S. Moalem Aluminum, Alzheimer's Disease and the Geospatial Occurrence of Similar Disorders Reviews in Mineralogy and Geochemistry, January 1, 2006; 64(1): 115 - 134. [Full Text] [PDF]
|
|
|
|
 |
|
 M. A Roe, A.-L. M Heath, S. L Oyston, C. Macrow, J. A Hoogewerff, R. Foxall, J. R Dainty, G. Majsak-Newman, G. Willis, and S. J Fairweather-Tait Iron absorption in male C282Y heterozygotes Am. J. Clinical Nutrition, April 1, 2005; 81(4): 814 - 821. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Beutler Iron absorption in carriers of the C282Y hemochromatosis mutation Am. J. Clinical Nutrition, October 1, 2004; 80(4): 799 - 800. [Full Text] [PDF]
|
|
|
|
 |
|
 R Surber, H H Sigusch, H Kuehnert, and H R Figulla Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography J. Med. Genet., May 1, 2003; 40(5): e58 - 58. [Full Text] [PDF]
|
|
|
|
 |
|
 E. Beutler, A. V. Hoffbrand, and J. D. Cook Iron Deficiency and Overload Hematology, January 1, 2003; 2003(1): 40 - 61. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J Fleming, K. L Tucker, P. F Jacques, G. E Dallal, P. W. Wilson, and R. J Wood Dietary factors associated with the risk of high iron stores in the elderly Framingham Heart Study cohort Am. J. Clinical Nutrition, December 1, 2002; 76(6): 1375 - 1384. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. T. Njajou, M. Hollander, P. J. Koudstaal, A. Hofman, J. C.M. Witteman, M. M.B. Breteler, and C. M. van Duijn Mutations in the Hemochromatosis Gene (HFE) and Stroke Stroke, October 1, 2002; 33(10): 2363 - 2366. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J Fleming, P. F Jacques, J. M Massaro, R. B D'Agostino Sr, P. W. Wilson, and R. J Wood Aspirin intake and the use of serum ferritin as a measure of iron status Am. J. Clinical Nutrition, August 1, 2001; 74(2): 219 - 226. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J Fleming, P. F Jacques, K. L Tucker, J. M Massaro, R. B D'Agostino Sr, P. W. Wilson, and R. J Wood Iron status of the free-living, elderly Framingham Heart Study cohort: an iron-replete population with a high prevalence of elevated iron stores Am. J. Clinical Nutrition, March 1, 2001; 73(3): 638 - 646. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Beutler, V. Felitti, T. Gelbart, and N. Ho The Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic Ann Intern Med, September 5, 2000; 133(5): 329 - 337. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Rossi, J. K. Olynyk, D. J. Cullen, G. Papadopoulos, M. Bulsara, L. Summerville, and L. W. Powell Compound Heterozygous Hemochromatosis Genotype Predicts Increased Iron and Erythrocyte Indices in Women Clin. Chem., February 1, 2000; 46(2): 162 - 166. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
