Abstract
Purpose: We wanted to compare phenotyping and HFE genotyping for diagnosis of hemochromatosis in 150 family members of 61 probands.
Methods: Phenotypes were defined by persistent transferrin saturation elevation, iron overload, or both; genotypes were defined by HFE mutation analysis.
Results: Twenty-five family members were C282Y homozygotes; 23 of these (92%) had a hemochromatosis phenotype. Twenty-three family members had HFE genotype C282Y/H63D; eight of these (35%) had a hemochromatosis phenotype. Six of 102 (6%) family members who inherited other HFE genotypes had a hemochromatosis phenotype.
Conclusion: Phenotyping and genotyping are complementary in diagnosing hemochromatosis among family members of probands.
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Barton, J., Rothenberg, B., Bertoli, L. et al. Diagnosis of hemochromatosis in family members of probands: A comparison of phenotyping and HFE genotyping. Genet Med 1, 89–93 (1999). https://doi.org/10.1097/00125817-199903000-00005
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DOI: https://doi.org/10.1097/00125817-199903000-00005
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