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Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay
Published on: January 31, 2022
[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
Insights
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.
- 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.
Abstract:
Screening for hereditary HFE hemochromatosis in the general population, by either phenotype or genotype, is not currently recommended by the French High Health Authority. Targeted screening for hereditary HFE hemochromatosis in groups with specific diseases (people with asthenia, arthropathic disorders, liver or heart disease, etc.) has not been shown to be effective. Family screening in first-degree relatives of any proband homozygous for C282Y is strongly advised. This should involve both phenotypic screening, that is, testing for serum iron markers and, if possible, a genotype study of siblings and adult children, conducted according to the rules for genetic counseling and testing. This type of screening is cost-effective. One obstacle today is that the national health insurance fund does not reimburse the HFE test.
