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HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population

J Y Lee1, K H Yoo, S H Hahn

  • 1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.

Journal of Korean Medical Science
|May 10, 2000
PubMed

Insights

Hereditary hemochromatosis (HFE) is rare in Koreans. Genetic testing found no C282Y HFE mutations in 502 individuals, indicating significant ethnic differences in HFE prevalence.

Area of Science:

  • Genetics
  • Internal Medicine
  • Population Health

Background:

  • Hereditary hemochromatosis (HFE) is an iron overload disorder common in Western populations.
  • The C282Y mutation in the HFE gene is the primary cause of HFE in Caucasians.
  • Previous reports suggest a low prevalence of HFE in Asian populations, hinting at ethnic heterogeneity.

Purpose of the Study:

  • To investigate the prevalence of the C282Y HFE gene mutation in the Korean population.
  • To determine the frequency of heterozygosity and homozygosity for this mutation.

Main Methods:

  • Genotyping analysis of the HFE gene.
  • Study included 502 unrelated Korean individuals.

Main Results:

  • No C282Y HFE mutations were detected in any of the 502 participants.
  • This finding contrasts sharply with the known prevalence in Caucasian populations.

Conclusions:

  • The C282Y HFE mutation is virtually absent in the Korean population.
  • This ethnic difference suggests genetic factors contribute to HFE prevalence variations.
  • The study helps differentiate HFE from other iron overload conditions in Koreans.

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