Authors' objectives:

Hemochromatosis is one of the most frequent genetic diseases (1.5 to 3 cases per 1000). It is characterised by a progressive iron overload which gives organ damage and dysfunction (liver, heart, pancreas). Blood testing is available for detection of this iron overload, and there is a treatment (phlebotomy). The French Ministry of Health asked ANDEM to determine whether or not a national screening programme for the disease should be implemented.

Authors' results and conclusions: Content:Based on a critical appraisal of the literature, we answered the following questions: efficacy of treatment, efficacy of the diagnostic tests; utility of screening; feasibility and acceptability of a national screening programme. Results:1) Efficacy of treatment: early phlebotomy allows to reduce morbidity and mortality, 2) Blood testing (transferrin saturation and/or ferritin) have a high sensitivity and specificity. However, the reproducibility of these tests is low, and appropriate cut off values for the general population do not exist. Moreover, liver biopsy is necessary to confirm the diagnostic. The mortality of liver biopsy varies from .5 to 3 per 1000. 3) We did not find any study assessing the benefit of such a screening programme.4) The main issue is that, given that the disease remains unknown either by the general population, and by doctors, the feasibility of a screening programme is poor. Furthermore, the acceptability of the diagnostic confirmation (liver biopsy) and the compliance to the lifelong phlebotomies are low.

Authors' recommendations: This study shows that rather than the "year of life saved" criterion, it is more important to take into account the preferences of the people concerned by a screening programme. Based on the low feasibility and acceptability, ANDEM concluded, in a report published in October 1995, that it was inappropriate to implement a screening programme for hemochromatosis in France. Other output or dissemination activity: There is no screening program of Hemochromatosis in France.

Authors' methods: Review

Project Status: Completed

URL for project: http://www.has-sante.fr/

Year Published: 1995

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: France

Organisation Name: L'Agence Nationale d'Accreditation d'Evaluation en Santé

Contact Address: 2 avenue du Stade de France, 93218 Saint-Denis La Plaine Cedex, France. Tel: +33 01 55 93 71 88; Fax: +33 01 55 93 74 35;

Contact Name: sh.leerobin@has-sante.fr

Contact Email: sh.leerobin@has-sante.fr

Copyright: Agence Nationale pour le Developpement de l'Evaluation Medicale