Submitted to: Journal of Federation of American Societies for Experimental Biology
Publication Type: Abstract Only
Publication Acceptance Date: 12/1/2001
Publication Date: 3/20/2002
Citation: Hunt, J.R., Zeng, H. 2002. Heme and nonheme iron absorption by humans with the C282Y and H63D HFE mutations associated with hemochromatosis [abstract]. The Federation of American Societies for Experimental Biology Journal. 16:A22. Interpretive Summary:
Technical Abstract: In people of Northern European origin, the iron storage disorder hemochromatosis is usually associated with homozygous C282Y mutations, and less frequently with compound heterozygous (C282Y and H63D) mutations in the HFE gene. By genotyping 103 subjects in our previous radioiron absorption studies, we investigated whether those with a heterozygous C282Y mutation absorbed iron more efficiently. HFE C282Y and H63D mutations were measured in DNA from buccal smears by PCR with enzymatic digestion. Subjects (n=24) with only the H63D mutation did not differ from wildtypes (neither mutation) in their iron absorption, as logarithmically related to serum ferritin. Two subjects who were compound heterozygous absorbed heme iron similarly, and absorbed somewhat more nonheme iron than wildtypes when tested with a high bioavailability, but not with a low bioavailability diet. Five subjects who were C282Y heterozygous absorbed no more heme or nonheme iron from a high bioavailability diet, with the possible exception that the only heterozygous subject with a low serum ferritin (8 ug/L) absorbed considerably more heme iron than wildtypes with similarly low ferritin levels (this may be consistent with an observed lower prevalence of iron deficiency in C282Y heterozygotes. These preliminary data do not suggest generally greater heme or nonheme iron absorption from food by people heterozygous for the C282Y HFE mutation.