D??pistage de l'h??mochromatose g??n??tique

  • Saglini V
  • Lazzaro M
  • Keller F
 et al. 
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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. © 2007 Elsevier Masson SAS. All rights reserved.

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Authors

  • Valerio Saglini

  • Mario Lazzaro

  • Franco Keller

  • Andreas Perren

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