title: HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population.
abstract: The aim of this study was to investigate HFE gene mutations, blood iron indices, and their clinical correlates in a Korean population. In 484 prospectively enrolled health-check examinees, HFE gene mutations and iron indices with clinical and laboratory variables were analyzed. Although neither the C282Y nor S65C gene mutation were found, the H63D heterozygote was detected in 41 subjects (8.5%). The mean serum ferritin and transferrin saturation (TS) were 136.2 +/- 129.8 microg/dl and 39.2 +/- 15.7%, respectively. The H63D genotype was not significantly associated with iron indices. High serum ferritin was associated with old age, the male gender, high body mass index (BMI), and the presence of nonalcoholic fatty liver disease (NAFLD). High TS was associated with the male gender and alcohol drinking. HFE gene mutation is rare; however, TS seems to be higher in Koreans compared to Caucasians or other ethnic groups. Serum ferritin reflects iron store as well as the presence of NAFLD.
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 300 Gumi-dong, Bundang-gu, Seongnam-si, Gyeonggi-do, 463-707, South Korea.
authors.forename: Sang Hyub
authors.initials: SH
authors.lastname: Lee
authors.forename: Jin-Wook
authors.initials: JW
authors.lastname: Kim
authors.forename: So Hyun
authors.initials: SH
authors.lastname: Shin
authors.forename: Kyoung Phil
authors.initials: KP
authors.lastname: Kang
authors.forename: Hyun Cheol
authors.initials: HC
authors.lastname: Choi
authors.forename: Sung Hee
authors.initials: SH
authors.lastname: Choi
authors.forename: Kyoung Un
authors.initials: KU
authors.lastname: Park
authors.forename: Hyun Young
authors.initials: HY
authors.lastname: Kim
authors.forename: Weechang
authors.initials: W
authors.lastname: Kang
authors.forename: Sook-Hyang
authors.initials: SH
authors.lastname: Jeong
mesh_terms: D000328:Adult; D000367:Age Factors; D044466:Asian People; D005260:Female; D005293:Ferritins / Q000097:blood*; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood*; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length; D011446:Prospective Studies; D014168:Transferrin / Q000378:metabolism*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron