The Referral Centre for rare genetically-caused iron overload

The referral centre, accredited since 2000 aims to offer to both patients and doctors, a referral option for the diagnostic and therapeutic management of rare genetically-caused iron overload.  These diseases occur when a person has an anomaly for certain genes which are involved in the metabolism of iron, leading to a build-up of iron in the body. The iron excess has harmful effects on the body’s organs and can lead to long-term complications.

The referral centre aims to : 

  • Facilitate the diagnosis and the treatment of rare iron overload
  • Improve patient care management at a national level, in partnership with other specialist centres.
  • Offer assistance for the coordination of family screening of these rare genetic diseases in order to prevent the occurrence of complications.
  • Develop research actions to improve knowledge about and treatment of these illnesses
  • Inform patients, their entourage and health professionals about excess iron pathologies.

In practice

The referral centre offers assistance for the diagnostic and/or therapeutic management of patients who present with iron overload.

Patients, within the course of their treatment, after having consulted their general practitioner or specialist doctor, may need an additional opinion.

Within this context the Referral centre takes in patients for consultations, or requests for opinions or for genetic analysis made by doctors who suspect genetically caused rare iron overloads.

This procedure for requesting an opinion from the Referral centre using requests sent via a clinical-biological form, can avoid when it is most practical, a sometimes unnecessary journey for the patient.

If necessary, patients can also be seen in consultation by one of the doctors from the referral centre or specialist centres.  At Rennes university hospital, consultations are undertaken by doctors from the liver diseases department.

Each request is then analysed in the course of a multidisciplinary meeting between hepatology specialists, molecular biologists, biochemists and researchers.  Each specialist is thus able to apply their specific expertise regarding these often complex pathologies.

At the end of this consultation the action to be taken to establish a diagnosis and/or therapeutic care is proposed.

When a genetic anomaly is observed in the patient, with regard for the need of the patient to inform his/her family, the referral centre may offer assistance in the organisation of family screening in order to help the patient to share the information in the clearest and most pertinent manner. 

For more details :

Informations annexes au site

Accès rapides