Authors' objectives:

The aim of this study is to reassess the benefit of mass screening for haemochromatosis in France on the basis of data published since the ANAES 1999 report.

Authors' results and conclusions: Definition: The type of iron overload of genetic origin for which a mass screening programme is discussed in this report is HFE1-haemochromatosis. Natural history: The disease develops in 4 stages after the age of 30: (1) asymptomatic, (2) biochemical evidence, (3) symptomatic, (4) complications leading to higher mortality in affected individuals (insulin-dependent diabetes, cirrhosis, hepatocellular carcinoma and cardiomyopathy). Prevalence: The frequency of the C282Y homozygous genotype in the French population (studies including >=200 subjects) is in the range 0.2 - 0.8%. The unknown and incomplete penetrance by the genotype precludes a precise estimate of the number of affected individuals in France. Treatment: The efficacy of phlebotomy on life expectancy has not been reassessed in 2004. Data published 15 years ago showed a return to a normal life expectancy. Screening tests: Measurement of blood ferritin and transferrin saturation coefficient detects iron overload; a test for C282Y homozygotes confirms HFE1-haemo-chromatosis. Conditions for mass screening: Unresolved questions are screening frequency, age range, strategy, threshold values for laboratory tests, problems of logistics, financing, regulation, raising awareness among professionals, reimbursement by Health Insurance.

Authors' recommendations: 1. Clinical data and economic models are in favour of increasing family screening for the C282Y homozygous genotype. The question of mass screening for HFE1-haemochromatosis in France is still unresolved in 2004 in view of the total cost of the strategies involved and the lack of clinical data for long-term efficacy. 2. Pilot studies should be carried out in regions with an adequate infrastructure to answer unresolved questions and assess the feasibility of mass screening.

Authors' methods: Systematic review, economic evaluation

Project Status: Completed

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

Year Published: 2004

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: L'Agence Nationale d'Accreditation d'Evaluation en Sante (ANAES)