These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A 6-year survey of HFE gene test for hemochromatosis diagnosis.
    Author: Mura C, Raguénes O, Scotet V, Jacolot S, Mercier AY, Férec C.
    Journal: Genet Med; 2005 Jan; 7(1):68-73. PubMed ID: 15654232.
    Abstract:
    PURPOSE: A 6-year survey of HFE gene test was conducted to evaluate its helpfulness for hereditary hemochromatosis diagnosis. METHODS: We analyzed C282Y, H63D, and S65C mutations on 3525 individuals. RESULTS: The test produced 89.7% and 30% of positive results for individuals clinically diagnosed hemochromatosis before HFE gene-test availability and those prospectively tested because of elevated serum iron parameter and/or family history, respectively; among them there were 90.4% and 48.7% of C282Y homozygotes. CONCLUSIONS: The HFE gene test confirmed a genetic defect that may lead to iron loading in individuals when iron parameter values, especially for the C282Y/C282Y, were still low as well as for genotypes usually associated with low expressivity and penetrance (C282Y/H63D, H63D/H63D). This gene-test should allow a biochemical follow-up of patients carrying a disease-related genotype.
    [Abstract] [Full Text] [Related] [New Search]