EASL Clinical Practice Guidelines

Patient organizations, use of blood from phlebotomy, reimbursement policies and fee exemptions

Patient organizations

The European Federation of Associations of Patients with Hemochromatosis (EFAPH) federates national European patient organizations. Its mission is to provide information for HC patients and their relatives, to raise public awareness, and to improve the quality of care for HC patients through the support of basic and clinical research (http://www.european-haemochromatosis.eu/index2.html).

Genetic testing

Measures must be put in place to avoid discrimination of HC patients. In accordance with legal regulations in most countries, genetic testing for HFE-HC should only be carried out after informed consent has been obtained and the results should be made available only to the patient and physicians involved in the management of HFE-HC.

The use of blood

Blood taken from patients with HFE-HC at phlebotomy should be made available for national blood transfusion services for the public good, if there is no medical contraindication and the patient has given consent. It is recognized that many patients with HFE-HC will have clinical features that exclude them from being accepted as donors (elevated liver function tests, diabetes, medications). But in the absence of these, there appears to be no medical reason, other than administrative and bureaucratic, for why the blood taken may not be used. In Europe, the fact that the blood is being taken for therapeutic reasons should not be a hindrance to its utilization.

A recent survey of EFAPH has shown that regulations for the use of blood obtained from venesection vary within Europe and even within some countries (Germany, Portugal, UK, Norway, and Italy). In Ireland and France, blood from patients with HFE-HC can be used for transfusion purposes under the appropriate medical circumstances. In France, blood donation is not forbidden in patients with HC although not explicitly permitted. According to this survey of the EFAPH, which only covered some parts of Europe, the use of blood from therapeutic venesection of HC patients is explicitly forbidden in some countries (Austria, Hungary, Iceland, Italy, The Netherlands, and Spain). The EASL CPG board for HFE-HC advocates the use of blood for therapeutic phlebotomomy (where there are no medical contraindications) for transfusion.

Fee exemptions and reimbursement policies

HFE-HC is a significant cause of liver disease and phenotypic testing for HC should be offered to all individuals suspected to suffer from iron overload or patients who are at risk for the development of the disease. Genetic testing for HFE-HC is not paid for in most countries; however, in some, such as France, it is reimbursed. The EASL CPG board on HC advocates full reimbursement of phenotypic and, where indicated, genetic testing for HFE-HC.

According to the EFAPH survey, reimbursement for the treatment is also highly variable across Europe and even varies within countries, where reimbursement may depend on where the treatment is carried out. The EASL CPG board on HC advocates full reimbursement for treatment of HFE-HC both in the therapeutic and the maintenance phase of therapy.