Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C
Hereditary hemochromatosis: the clinical significance of the S65C
mutation introduces an additional 3rd mismatch between primer and target, because the S65C
mutation is also located in the binding site of the reverse 63mut primer.
Frequency of HFE H63D, S65C
, and C282Y mutations in patients with iron overload and controls from Toledo, Spain.
variant is not associated with increased transferrin saturation in voluntary blood donors.
It is noteworthy that 24 (57%) of the participants made no efforts for identification and that 27 (64%) and 26 (62%) of the participants did not comment on the heterozygous H63D or the S65C
compound heterozygosity, respectively.
Unlike the validated cell lines in this study, the NIGMS cell lines have not been tested for the recently described mutation S65C
We found that this cell line is heterozygous for S65C
(15) in the HFE gene as well as heterozygous for type 2 [alpha]-thalassemia.
hepcidin G71D and TfR2 V22I) carried the HFE C282Y or S65C
allele (Table 3).
This design allowed amplicons containing either the wild-type codon 65 or the S65C
mutation equally to hybridize to the microwells.
In a previous study, we reported that the S65C
mutation was significantly enriched in HC chromosomes that carried neither the C282Y nor the H63D mutation and that, as with the H63D mutation, the 565C mutation could be another variant contributing to iron overload in mildly affected hemochromatosis subjects (18).
is considered a benign polymorphism, a C282Y/S65C
genotype may confer a slight increase in disease risk, contributing to a mild disease phenotype (19).