Recent studies have shown that hereditary hemochromatosis (HH) is likely to be 
caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.5 Mb 
telomeric to HLA-A. Population studies of this polymorphism are facilitated by 
the fact that the Cys282Tyr mutation creates a Rsal restriction site. We have 
studied the codon 282 (Cys/Tyr) polymorphism in different ethnic groups. In 
agreement with previous observations the Tyr allele appeared to be rare or 
absent in Asiatic (Indian, Chinese) populations. The highest allele frequency 
(7.5%) was found in Swedes. Saamis (2%) and Mordvinians (1.8%) had significantly 
lower frequencies of the Tyr allele. Comparisons with allele frequencies based 
on prevalence estimates of HH showed some disagreements with the RFLP data, 
particularly in Finns. The newly described HFE marker provides a new approach to 
the screening of HH as well as studies of the relationship between the HFE Tyr 
allele and different disorders including cancer.