[Screening for hereditary HFE hemochromatosis].
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.
Deugnier
Yves
Y
Service des maladies du foie, Centre de dépistage familial de l'hémochromatose, CHU Pontchaillou, Rennes. yves.deugnier@univ-rennes1.fr
Jouanolle
Anne-Marie
AM
D001177:Arthropathy, Neurogenic / Q000453:epidemiology; D001247:Asthenia / Q000453:epidemiology; D015415:Biomarkers; D003362:Cost-Benefit Analysis; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D006432:Hemochromatosis / Q000191:economics / Q000453:epidemiology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007349:Insurance, Health, Reimbursement; D008297:Male; D008403:Mass Screening / Q000191:economics / Q000379:methods*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype
D015415:Biomarkers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins