The objective was to assess the frequencies of haemochromatosis (HFE) gene mutations or variants C282Y, H63D and S65C in ethnic Danes. This is a prospective epidemiologic population study. A cohort of 6,020 Danish men aged 30-50 years was screened for HFE C282Y (c845G-->A), H63D (c187C-->G) and S65C (c193A-->T) gene variants, assessed on saliva or blood samples by restriction fragment length polymorphism (RFLP) analysis. The C282Y gene variant allele was present in 5.6%, H63D in 12.8% and S65C in 1.8% of the chromosomes. In the entire series, we observed 1.4% H63D/C282Y, 0.1% S65C/C282Y and 0.4% H63D/S65C compound heterozygotes. The C282Y allele frequency in Denmark is of similar order as reported in other Scandinavian countries: Iceland 5.1%, Faeroe Islands 6.6%, Norway 6.8% and Sweden 5.8%. Also, the H63D frequency in Denmark is close to the frequencies in other Scandinavian countries: Iceland 10.9%, Faeroe Islands 15.2%, Norway 11.4% and Sweden 12.1%.

The aim of the study was to assess the frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in ethnic Danes. The series comprised 2501 subjects (1284 men) of Danish heritage who were drawn at random from the Census Registry in age cohorts of 30, 40, 50, and 60 years. The frequency of the C282Y and H63D mutations was assessed on blood samples by genotyping using a polymerase chain reaction (PCR) technique. The HFE genotype distribution was in Hardy-Weinberg equilibrium (p=0.85). C282Y mutation: 9 subjects (0.36%) were homozygous and 265 subjects (10.6%) were heterozygous. H63D mutation: 40 subjects (1.6%) were homozygous and 584 subjects (23.4%) were heterozygous. C282Y/H63D compound heterozygosity was found in 36 subjects (1.4%). The C282Y allele frequency was 5.7% [95% confidence interval (CI) 5.0-6.3%] and the H63D allele frequency was 13.3% (95% CI 12.3-14.2%). In conclusion, the C282Y frequency is relatively high in the Danes, being close to the frequency in other Scandinavian countries, i.e., Iceland 5.1%, the Faroe Islands 6.6%, and Sweden 5.7%, but significantly lower than in Norway 6.6% (p=0.02). Also, the H63D frequency in Danes is close to and not significantly different from the frequency in Iceland 10.9%, Norway 11.2%, and Sweden 12.4%, but significantly lower than in the Faroe Islands 15.4% (p=0.046).

In most studies there was good agreement between the hemochromatosis allele frequencies determined by phenotypic and genotypic methods. A high ratio (northern Italy) may indicate that phenotypic selection criteria were too loose and/or that causes of iron overload other than the Cys282Tyr mutation are frequent in the region. A low ratio (in Finland) may indicate phenotypic selection criteria that were too stringent and/or a low penetration rate of the mutation.

Introduction:The need for anticoagulation therapy increases with age, mainly due to the increased prevalence of atrial fibrillation. Time in therapeutic range (TTR) is a marker of the quality of the therapy as TTR is inversely correlated with adverse reactions. We developed a bioanalyst-led management program for control of warfarin treatment in elderly disabled patients in their own home and maintain a high TTR. Material and Methods: Residents in nursing home settings were included. Visiting nurses measured INR with a point of care testing device. If INR was within Therapeutic Range (TR), the nurse dosed warfarin unaltered. If INR was out of TR, the visiting nurse contacted a specially trained bioanalyst by phone. An explanation was sought, and a new dosage plan was made. Results: A total of 579 patients were included; 356 females (61%). Mean age was 79.6 years. Approximately 10% were residents in nursing home settings and the rest in domiciliary care. TTR was 72%. The subtherapeutic values were 15% and supratherapeutic values 13%. In total, 139 patients died during the study period. Ten deaths could be related to possible side effects of warfarin treatment. Conclusions: Our results indicate that a bioanalyst-led program is T. Vedtofte et al. 624able to simplify anticoagulation monitoring, while maintaining INR control similar to a specialized clinic. Furthermore, we avoided hospitalizations when INR was unacceptably high by treating the patient with oral vitamin-K at home. Our findings could be helpful when planning warfarin treatment in elderly, fragile patients.