HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
10.3346/jkms.2000.15.2.179
- Author:
Ji Yon LEE
1
;
Kyung Hwa YOO
;
Si Houn HAHN
Author Information
1. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Hemochromatosis, Genes;
Mutation;
Point Mutation;
Korea
- MeSH:
Alleles;
Caucasoid Race/genetics*;
DNA Primers;
Genetic Screening;
Genotype;
HLA Antigens/genetics;
Hemochromatosis/genetics*;
Hemochromatosis/ethnology*;
Histocompatibility Antigens Class I/genetics;
Human;
Korea/epidemiology;
Mongoloid Race/genetics*;
Point Mutation*;
Prevalence
- From:Journal of Korean Medical Science
2000;15(2):179-182
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this mutation. However, the prevalence of hemochromatosis in the Asian population was reported to be very low and ethnic heterogeneity has been suspected. The aim of our study was to determine the prevalence of heterozygosity and homozygosity for the C282Y HFE gene mutations in 502 unrelated Koreans. Results revealed that none of them had the mutant gene, suggesting a significant ethnic difference when compared with Caucasians. Our study excluded underlying possibility of hereditary hemochromatosis in Korean which could mimic the findings of alcoholic liver disease with iron overload or liver cirrhosis with chronic hepatitis C.
