HFE Gene Mutations, Serum Ferritin Level, Transferrin Saturation, and Their Clinical Correlates in a Korean Population

  • Sang Hyub Lee
  • Jin-Wook Kim
  • So Hyun Shin
  • Kyoung Phil Kang
  • Hyun Cheol Choi
  • Sung Hee Choi
  • Kyoung Un Park
  • Hyun Young Kim
  • Weechang Kang
  • Sook-Hyang JeongEmail author
Original Article


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 μg/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.


HFE gene Iron Ferritin Transferrin saturation Korea 



This study was supported by research funding from the Seoul National University Bundang Hospital (grant no. 02-2006-042).


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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Sang Hyub Lee
    • 1
  • Jin-Wook Kim
    • 1
  • So Hyun Shin
    • 1
  • Kyoung Phil Kang
    • 1
  • Hyun Cheol Choi
    • 1
  • Sung Hee Choi
    • 1
  • Kyoung Un Park
    • 2
  • Hyun Young Kim
    • 3
  • Weechang Kang
    • 4
  • Sook-Hyang Jeong
    • 1
    Email author
  1. 1.Department of Internal Medicine, Seoul National University College of MedicineSeoul National University Bundang HospitalSeongnam-siSouth Korea
  2. 2.Department of Laboratory Medicine, Seoul National University College of MedicineSeoul National University Bundang HospitalSeongnam-siSouth Korea
  3. 3.Health Promotion CenterSeoul National University Bundang HospitalSeongnam-siSouth Korea
  4. 4.Department of Information and StatisticsDaejeon UniversityDaejeonSouth Korea

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