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Blood, 15 May 2005, Vol. 105, No. 10, pp. 3812-3816.
Prepublished online as a Blood First Edition Paper on January 21, 2005; DOI 10.1182/blood-2004-07-2807.


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Submitted August 2, 2004
Accepted January 11, 2005

Hereditary hemochromatosis is reflected in the iron isotope composition of blood

Pierre-Alexandre Krayenbuehl, Thomas Walczyk, Ronny Schoenberg, Friedhelm von Blanckenburg, and Georg Schulthess*

Department of Internal Medicine, University Hospital of Zurich, Zurich, Switzerland
Laboratory of Human Nutrition, Institute of Food Science and Nutrition, Swiss Federal Institute of Technology (ETH), Zurich, Switzerland
Institute of Mineralogy, University of Hannover, Hannover, Germany

* Corresponding author; email: georg.schulthess{at}usz.ch.

It has recently been shown that the iron isotopic composition of blood differs between individuals and genders which is supposed to reflect individual differences in iron metabolism. We hypothesized that patients suffering from hereditary hemochromatosis would demonstrate alterations in the iron isotopic composition of blood due to persistent upregulation of intestinal iron absorption. Blood of 30 patients with homozygous C282Y hemochromatosis was analyzed for iron isotopic composition by a newly developed technique using multicollector inductively coupled plasma mass spectrometry (MC-ICP-MS). Blood of hemochromatosis patients is characterized by a higher 56Fe/54Fe isotope ratio than blood of normal individuals, which are either members of an age-matched control group (n=10, p=0.0003) or young adults (n=36, p< 0.0001). In patients with hereditary hemochromatosis, the 56Fe/54Fe isotope ratio of blood significantly correlates with total body iron accumulation, severity of clinical disease, and the need for regular phlebotomies to prevent iron re-accumulation. We conclude that blood of patients with hereditary hemochromatosis contains more of the heavier iron isotopes than blood of normal individuals. Primary determinant of the iron isotopic composition of blood appears to be isotope-sensitive iron absorption in the intestine and the efficiency of this process.


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P.-A. Krayenbuehl, F. E. Maly, M. Hersberger, P. Wiesli, A. Himmelmann, K. Eid, P. Greminger, W. Vetter, and G. Schulthess
Tumor Necrosis Factor-{alpha} -308G>A Allelic Variant Modulates Iron Accumulation in Patients with Hereditary Hemochromatosis
Clin. Chem., August 1, 2006; 52(8): 1552 - 1558.
[Abstract] [Full Text] [PDF]



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