Hereditary haemochromatosis (HH) is a genetic condition marked by iron overload in the blood. While the prevalence of this genetic defect (homozygosity of the C282Y mutation in the HFE gene) varies widely among Member States, it is estimated that 2 million inhabitants in the EU are potentially affected by the disease. Scientists and patients’ groups have already worked on raising awareness of hereditary haemochromatosis which, if not diagnosed early, can result in severe damage to vital organs (cirrhosis and carcinoma of the liver, diabetes, polyarthritis and hormonal disorders) inducing not only poor quality of life but also disabilities and even death.
At present, simple and cost-effective ways already exist to diagnose and treat hereditary haemochromatosis effectively. A suspected diagnosis can be given by means of very simple and low-cost blood tests (transferrin saturation and ferritin) and can easily be confirmed by a sensitive and specific genetic test (search for C282Y mutation). If the test is positive it is extended to the patient’s relatives. The current treatment consists of blood-letting or phlebotomy. Phlebotomies are periodically repeated in order to eliminate iron overload.
Given the cross-border dimension of hereditary haemochromatosis as well as the number of European patients potentially affected, and while recognising the primary responsibility of Member States for the organisation and delivery of health services and medical care, could the Commission answer the following questions:
1. Is the Commission considering initiatives or programmes which could enhance awareness of hereditary haemochromatosis, notably targeting risk-group populations and health professionals (particularly general practitioners)?
2. Would the Commission consider the development of specific guidelines to enhance early detection and diagnosis of hereditary haemochromatosis, thus allowing cost-effective management of the disease for healthcare systems in Europe by reducing the number of late-diagnosed patients?
3. Does the Commission intend to continue and step up its support for research into hereditary or genetic diseases?
Answer given by Mr Dalli on behalf of the Commission
Haemochromatosis is one of the most frequent hereditary diseases in Europe. It tends to be under-diagnosed, partly because its symptoms are similar to those of a range of other illnesses. There is no accepted European study on the prevalence of the disease. Even if a doubt about exact epidemiological data in Europe persists, it has been recommended to stakeholders to use the facilities of the EU framework on rare diseases.
The Commission's action on rare diseases is presented in the Communication on Rare Diseases: Europe's challenges. Due to the very high number of diseases, the Commission does not have the means to address each individual rare disease with specific actions. This is why the Commission seeks to provide solutions for rare diseases as a whole and does not intend to develop specific guidelines on early detection and diagnosis of hereditary haemochromatosis, nor is it planning to organise awareness campaigns addressing health professionals.
The Commission has however been supporting collaborative research in this area through its Framework Programme for Research (FP7) since 2007. The Commission supported the research project EUROIRON on Genetic control of the pathogenesis of diseases based on iron accumulation especially haemochromatosis. The EuroGentest Network has also developed useful tools for genetic testing in haemochromatosis. Further opportunities for investigating diseases of iron metabolism may arise in future calls for proposals within FP7.
The Commission has proposed to the Parliament and the Council to give due consideration to genetic diseases in the Health, demographic change and wellbeing section of the Societal Challenges priority in its proposal for Horizon 2020, the FP for Research and Innovation (2014-2020).
 COM(2008) 679 final
 EuroGentest Network for test development, harmonization, validation and standardization of genetic testing in Europe, http://www.eurogentest.org/
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+ 32 2 284 58 42