Hereditary hemochromatosis is an iron overload disorder and is the most common recessive disease in Caucasians. About 80% of hemochromatosis patients are homozygous for the C282Y mutation in the HFE gene. Since iron accumulation can be prevented by phlebotomy, there is increasing interest in screening populations for hemochromatosis. Hemochromatosis is a disease that meets all the criteria for screening as set by the World Health Organization (WHO) or the US preventive services task force criteria for a screening program. However, there is no consensus on the value of a screening program for hemochromatosis. Moreover, there is no agreement on whether this screening should be based on the phenotype i.e. biochemical levels of serum iron parameters or on the genotype i.e. based on the presence of mutations in the HFE gene. Other important concerns are the lack of important data in evaluating screening as well as the psychosocial impact of a screening program. The present review analyses the current situation from a genetic-epidemiological perspective. We conclude that general population screening may be helpful to identify high-risk groups or individuals in the early stage of the disease so that treatment can be started. We suggest a two-phase screening program based on the first instance on serum iron levels and then a genetic test to only those with elevated serum iron parameters.

Genetic epidemiology, Hemochromatosis, HFE, Penetrance, Screening
dx.doi.org/10.1023/B:EJEP.0000017664.96394.b9, hdl.handle.net/1765/64473
European Journal of Epidemiology
Erasmus MC: University Medical Center Rotterdam

Njajou, O.T, Alizadeh, B.Z, & van Duijn, C.M. (2004). Is genetic screening for hemochromatosis worthwhile?. European Journal of Epidemiology (Vol. 19, pp. 101–108). doi:10.1023/B:EJEP.0000017664.96394.b9