title: Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screening.
abstract: There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25-29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45%) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8% of the 51 participants with previous H/IO reports had elevated TS; 13.7% had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25-29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire.
authors.affiliation: Southern Iron Disorders Center, Birmingham, Alabama, USA. ironmd@dnamail.com
authors.forename: James C
authors.initials: JC
authors.lastname: Barton
authors.forename: Ronald T
authors.initials: RT
authors.lastname: Acton
authors.forename: Catherine
authors.initials: C
authors.lastname: Leiendecker-Foster
authors.forename: Laura
authors.initials: L
authors.lastname: Lovato
authors.forename: Paul C
authors.initials: PC
authors.lastname: Adams
authors.forename: John H
authors.initials: JH
authors.lastname: Eckfeldt
authors.forename: Christine E
authors.initials: CE
authors.lastname: McLaren
authors.forename: Jacob A
authors.initials: JA
authors.lastname: Reiss
authors.forename: Gordon D
authors.initials: GD
authors.lastname: McLaren
authors.forename: David M
authors.initials: DM
authors.lastname: Reboussin
authors.forename: Victor R
authors.initials: VR
authors.lastname: Gordeuk
authors.forename: Mark R
authors.initials: MR
authors.lastname: Speechley
authors.forename: Richard D
authors.initials: RD
authors.lastname: Press
authors.forename: Fitzroy W
authors.initials: FW
authors.lastname: Dawkins
mesh_terms: D000328:Adult; D023181:Antimicrobial Cationic Peptides / Q000235:genetics; D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011401:Promoter Regions, Genetic; D011990:Receptors, Transferrin / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human