Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis

Hum Hered. 2001;52(2):110-2. doi: 10.1159/000053362.


Frequencies of three different mutant haemochromatosis (HFE) alleles (282Tyr, 63Asp and 65Cys) were studied in three northern European populations, i.e. Finns, Swedes and Swedish Saamis. In Finns and Swedes the allele frequencies were within the range found in other populations from northern and western Europe. The Saamis differed from the Swedes with respect to all mutant alleles. Lower frequencies compared to Swedes were found for the 282Tyr (p = 0.0046) and 63Asp (p = 0.034) alleles, whereas the frequency of the 65Cys allele was higher (p = 0.046) in the Saamis. The total distribution of HFE alleles in Saamis showed a highly significant difference from that in Swedes (chi2 = 16.7, 3 d.f., p = 0.0008). These results further underline the genetic uniqueness of the Saamis.

MeSH terms

  • Ethnicity / genetics*
  • Finland
  • Gene Frequency
  • Hemochromatosis / genetics*
  • Humans
  • Mutation*
  • Point Mutation
  • Sweden / ethnology