Prevalence of the HFE Cys282Tyr mutation of haemochromatosis gene in individuals from Cantabria, Spain, and in patients with genetic haemochromatosis

BACKGROUND: The aim of our study was to evaluate the prevalence of Cys282Ty r mutation in patients with genetic haemochromatosis (GH) in Cantabria. PATIENTS AND METHODS: The HFE Cys282Tyr mutation was determined in a cohort of 60 patients with GH and 213 controls. RESULTS: The frequency of the Cys282Tyr mutation in control individuals was 4.4%. Sixty-seven percent of patients with GH were homozygous for the Cys2 82Tyr mutation. Twenty-seven percent of patients were normal at Cys282Tyr l oci. CONCLUSIONS: The prevalence of the Cys282Tyr mutation in patients with GH i n Cantarbia, Spain, seems to be lower than in North America and in North Eu rope patients.