Prevalence of Three Hereditary Hemochromatosis Mutant Alleles in the Michigan Caucasian Population
2005; Karger Publishers; Volume: 8; Issue: 3 Linguagem: Inglês
10.1159/000086760
ISSN1662-8063
AutoresElizabeth L. Barry, Teresa Derhammer, Sarah H. Elsea,
Tópico(s)Trace Elements in Health
Resumo<i>Objective:</i> To investigate the prevalence in the Michigan non-Hispanic Caucasian population of the C282Y, H63D and S65C mutations in the <i>HFE</i> gene associated with hereditary hemochromatosis. <i>Methods:</i> Polymerase chain reaction and restriction fragment length polymorphism analysis were performed on 3,532 blood samples from newborn screening cards provided by the state of Michigan. <i>Results:</i> More than 30% of Michigan Caucasians carry one <i>HFE</i> mutation, while 6% have two mutations. The allele frequency of the C282Y mutation is 5.7%, significantly higher than expected (p < 0.05), while the frequency of the H63D mutation is 14%, significantly lower than expected (p < 0.01). <i>Conclusions:</i> This is the first publication to examine <i>HFE</i> allele frequencies in an unbiased sample of the Caucasian population. Results indicate that the C282Y mutation may be more common in the non-Hispanic Caucasian population than previously reported, and medical problems related to iron overload may be a health concern for Michigan non-Hispanic Caucasians. Additional studies of penetrance for the C282Y allele are required to fully understand the impact of this information.
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