Screening for haemochromatosis
Primary haemochromatosis (PH) is now known to be more prevalent than was previously suspected. It is the most common autosomal recessive hereditary disease amongst people of North European origin. Untreated, the condition can have serious consequences. Doctors often either fail to recognise the disease or diagnose it at too late a stage. This results in adverse consequences for individual patients and, in view of the prevalence of the disease, for society at large.
Literature on the subject suggests that systematic population screening is likely to be reasonably or even very cost-effective. However, a number of issues need to be addressed before the establishment of a national screening programme may be considered justified. These issues relate to the case definition, the natural course of the disease, selection of an appropriate screening method, determination of the appropriate screening age and, finally, the post-screening treatment options. Closer examination of the ethical issues would also seem desirable, as would an estimation of the social consequences. Furthermore, the organisation of a national screening programme also requires thorough analysis.
For the time being, it would appear advisable to focus on people who are at increased risk, by screening the immediate families of known sufferers and by seeking to promote the early identification of people who exhibit symptoms consistent with PH. The early identification of possible sufferers should be promoted by increasing doctors’ awareness of the condition’s prevalence, diagnosis and treatment. This could be achieved by information campaigns and continuous medical education (CME) activities. A national protocol for the diagnosis and treatment of haemochromatosis, drawn up by the relevant professional groups (internists, clinical geneticists an GPs), is also considered desirable.
Finally, it is recommended that consideration be given to amending the existing regulation, to make it possible for manifest or non-manifest PH sufferers or people with an increased risk of PH, to donate blood.