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Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay

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[Screening for hereditary HFE hemochromatosis].

Yves Deugnier¹, Anne-Marie Jouanolle

¹Service des maladies du foie, Centre de dépistage familial de l'hémochromatose, CHU Pontchaillou, Rennes. yves.deugnier@univ-rennes1.fr

Presse Medicale (Paris, France : 1983)

|June 5, 2007

Summary

Screening for hereditary hemochromatosis (HFE) in the general population is not recommended. However, family screening of HFE gene mutations in relatives of affected individuals is cost-effective and advised.

Area of Science:

Medical Genetics
Public Health
Clinical Diagnostics

Background:

Hereditary hemochromatosis (HFE) screening is not universally recommended in France.
Targeted HFE screening in specific patient groups lacks demonstrated effectiveness.
Family screening is a key strategy for identifying HFE gene mutations.

Purpose of the Study:

To evaluate the effectiveness and cost-effectiveness of different HFE hemochromatosis screening strategies.
To provide recommendations on HFE screening based on current evidence and guidelines.

Main Methods:

Review of current French High Health Authority recommendations.
Analysis of targeted screening effectiveness in specific patient cohorts.
Assessment of family screening protocols, including phenotypic (serum iron markers) and genotypic (HFE gene testing) approaches.

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Evaluation of cost-effectiveness of family screening.

Main Results:

General population screening for HFE hemochromatosis is not advised.
Targeted screening in patients with conditions like asthenia or liver disease is ineffective.
Family screening of first-degree relatives of C282Y homozygous individuals is strongly recommended.
Phenotypic and genotypic testing within families is effective and cost-effective.
Lack of national health insurance reimbursement for HFE testing is a current obstacle.

Conclusions:

Family screening for hereditary hemochromatosis (HFE) is the most effective strategy.
HFE genetic counseling and testing should be implemented for relatives of affected individuals.
Despite cost-effectiveness, reimbursement issues hinder widespread HFE family screening.