title: Hemochromatosis gene mutations and treatment of anemia in patients on hemodialysis.
abstract: Hemochromatosis causes iron overload by enhanced intestinal absorption. This study examined erythropoietin and intravenous (i.v.) iron requirements in hemodialysis (HD) patients with HFE mutations. Patients on HD for > 90 days with no cause of anemia except chronic kidney disease were tested for HFE mutations (H63D and C282Y). Intravenous iron and erythropoietin doses were adjusted to achieve recommended targets. Monthly hemoglobin (Hb), ferritin, mean corpuscular volume, mean cell hemoglobin, erythropoietin, and i.v. iron doses for 3 consecutive months were averaged. Of 172 patients, 71 (41.3%) had > or = 1 HFE mutation: 24 (14%) C282Y heterozygotes, 40 (23.3%) H63D heterozygotes, 5 compound heterozygotes, and 2 homozygotes. Comparing patients with > or = 1 HFE mutation to those without mutations showed no significant difference in Hb or serum ferritin. There was a trend toward lower median weekly erythropoietin dose in patients with > or = 1 HFE mutation (94.0 vs. 135.4 U/kg body weight; P=0.13). There was no difference in median weekly i.v. iron dose (1.0 vs. 0.9 mg/kg body weight; P=0.56). Comparing the 30 patients with a C282Y mutation to patients without HFE mutations produced similar results. Comparing the 47 patients with an H63D mutation, with those without HFE mutations, no discernable trend was observed. In this study, patients with HFE gene mutations on HD for established renal failure do not require less iron supplementation to achieve recommended Hb targets. We observed a trend toward lower erythropoietin requirement in patients possessing C282Y mutations. Larger studies may clarify the role of HFE mutations, regulators of iron metabolism and erythropoiesis in chronic kidney disease.
authors.affiliation: Renal Unit, Level 7, Western Infirmary, Glasgow, UK. michaelabrown@nhs.net
authors.forename: Michaela C
authors.initials: MC
authors.lastname: Brown
authors.forename: Dairena
authors.initials: D
authors.lastname: Gaffney
authors.forename: Clare
authors.initials: C
authors.lastname: Gemmell
authors.forename: Eleanor
authors.initials: E
authors.lastname: Oakes
authors.forename: Scott
authors.initials: S
authors.lastname: Morris
authors.forename: Richard
authors.initials: R
authors.lastname: Spooner
authors.forename: Alan G
authors.initials: AG
authors.lastname: Jardine
authors.forename: Colin C
authors.initials: CC
authors.lastname: Geddes
mesh_terms: D000740:Anemia / Q000235:genetics* / Q000628:therapy*; D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D006435:Renal Dialysis
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins