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HFE gene mutations, serum ferritin level, transferrin saturation, and their clinical correlates in a Korean population

Cited 18 time in Web of Science Cited 17 time in Scopus
Authors
Lee, Sang Hyub; Kim, Jin-Wook; Shin, So Hyun; Kang, Kyoung Phil; Choi, Hyun Cheol; Choi, Sung Hee; Park, Kyoung Un; Kim, Hyun Young; Kang, Weechang; Jeong, Sook-Hyang
Issue Date
2008-08-07
Publisher
Springer Verlag
Citation
Dig Dis Sci. 2009 ;54(4):879-86.
Keywords
AdultAge FactorsAsian Continental Ancestry GroupFemaleFerritins/*bloodGenotypeHistocompatibility Antigens Class I/*geneticsHumansIron/*bloodKoreaMaleMembrane Proteins/*geneticsMiddle AgedMutation, MissensePolymorphism, Restriction Fragment LengthProspective StudiesTransferrin/*metabolism
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.
ISSN
1573-2568 (Electronic)
Language
English
URI
https://hdl.handle.net/10371/62318
DOI
https://doi.org/10.1007/s10620-008-0432-6
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College of Medicine/School of Medicine (의과대학/대학원)Internal Medicine (내과학전공)Journal Papers (저널논문_내과학전공)
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