Soo Jin Choi, Won-Ki Min, Sail Chun, Hyosoon Park, Jong Won Kim, Chan Jeong Park, Hyun Sook Chi
Frequencies of C28Y and H63D Mutations and Transferrin Saturation Indices in the Korean Population
Hereditary hemochromatosis (HHC) is an autosomal
recessive disorder that damages various organs because
of the deposition of excess iron. At the human
hemochromatosis (HFE) gene, two mutations of
C282Y and H63D have been reported. The frequencies
of C282Y and H63D mutations vary among ethnic
groups. At present, the most suitable screening test
for HHC is the assessment of transferrin saturation
(TS). We investigated the distribution of TS and the
frequencies of C282Y and H63D mutations among Koreans.
TS was measured in 2152 subjects who visited
the health promotion center for a checkup. The mean
(±SD) of TS was 41.7±15.4%. We randomly selected
240 subjects and tested them for C282Y and H63D mutations
using PCR-restriction fragment length polymorphism
(RFLP). All 240 randomly selected samples
were found to be G/G homozygous non-mutated for
C282Y. Of the 240 subjects, 18 (7.5%) were found to be
C/G heterozygous and 222 subjects were C/C homozygous
non-mutated for H63D. In this study, the C282Y
mutation was not found in the Korean population, and
the H63D mutation showed allele frequency of 3.8%.
The mean TS in this study was higher than that of Caucasians.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 40, 07/2002
Pages: 689 - 692
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