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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.
Submitted August 2, 2004
Department of Internal Medicine, University Hospital of Zurich, Zurich, Switzerland * 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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