Regional Differences in the Idiopathic Hemochromatosis Gene Frequency in Sweden

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Abstract
Screening for idiopathic hemochromatosis (IH) in 941 men, 55 years of age, did not reveal any individual with both biochemical abnormalities and liver iron content compatible with homozygosity for the IH gene. In a large autopsy series of 8834 males representative of southern Sweden, we found classical hemochromatosis in 0.1 %. The results are in contrast with the high frequency of homozygous IH found in the county of Jämtland in central Sweden. We suggest that the difference in gene frequency is a result of enrichment of the recessive IH gene in the Jämtland population by the mechanisms of sampling and drift. We conclude that population screening for early IH in southern Sweden is not worthwhile.

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