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
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.
Dig Dis Sci. 2009 Apr;54(4):879-86. doi: 10.1007/s10620-008-0432-6. Epub 2008 Aug 6.
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.
本研究旨在调查韩国人群中的HFE基因突变、血液铁指标及其临床相关性。在484名前瞻性招募的健康体检者中，分析了HFE基因突变以及铁指标与临床和实验室变量的关系。虽然未发现C282Y和S65C基因突变，但在41名受试者（8.5%）中检测到H63D杂合子。血清铁蛋白和转铁蛋白饱和度（TS）的平均值分别为136.2±129.8μg/dl和39.2±15.7%。H63D基因型与铁指标无显著相关性。高血清铁蛋白与老年、男性、高体重指数（BMI）以及非酒精性脂肪性肝病（NAFLD）的存在有关。高TS与男性和饮酒有关。HFE基因突变较为罕见；然而，与白种人或其他种族相比，韩国人的TS似乎更高。血清铁蛋白反映铁储存以及NAFLD的存在情况。
