Abstract
Hereditary hemochromatosis (HH) is a very frequent recessive disorder among Caucasians and - in most cases - associated with homozygosity for the single missense mutation Cys282Tyr (G845A) in the HFE gene. The prevalence of HH in Germany is estimated to be between 1 in 205 to 1 in 420 individuals, based on two recent molecular genetic studies on HH patients and healthy controls. Homozygosity for Cys282Tyr was present in 77.8% versus 94.6% of the patient groups and heterozygosity was 12.3% versus 9.5% among controls. Large scale Cys282Tyr mutation analysis is technically easy, reliable and cheap. Early diagnosis and treatment largely prevent iron overload and complications like liver cirrhosis, liver cancer, cardiomyopathy and diabetes mellitus. Population-based genetic screening can identify the vast majority of still asymptomatic HH homozygotes, who could extremely benefit from the knowledge of their genotype. To investigate the economic consequences of a genetic HH screening in Germany, we performed a decision tree analysis with TreeAge (Data). Quantification of screening and treatment costs and the effect on life expectancies was achieved with Excel-calculations (Version 5a). Under the very conservative assumptions of 10% penetrance, carrier frequency of 10%, mean age of onset of complications 54 years, and 90% compliance regarding treatment (phlebotomy), we calculated the present value to be 14.52 DM per tested person versus 3.42 DM per person who will not be tested. The life expectancies for 25years old males will be 48.99843 years (if not tested) versus 48.99970 years (if tested). By dividing the difference of costs by the difference of life expectancy, we calculated the costs for one further year of life to be 8881.70 DM, which is very well acceptable in comparision to the costs of other health care measures. Under less stringent conditions (higher penetrance, higher carrier frequency) the costs decrease substantially. We conclude that genetic HH screening in Germany is feasible under health economic aspects. It is appropriate to implement a pilote screening project as well as to study the remaining uncertainties like the penetrance of the disease, the appropriate age of the test persons and the psychological impact of genetic HH. (1US$ = 1.65 DM)
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Schöffski, O., Schmidtke, J. & Stuhrmann, M. Towards the implementation of population -based genetic hemochromatosis screening in Germany. Genet Med 1, 75 (1999). https://doi.org/10.1097/00125817-199901000-00133
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DOI: https://doi.org/10.1097/00125817-199901000-00133