Diagnosis of hemochromatosis in family members of probands: A comparison of phenotyping and HFE genotyping

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.

DOI: 10.1097/00125817-199903000-00005

Cite this paper

@article{Barton1999DiagnosisOH, title={Diagnosis of hemochromatosis in family members of probands: A comparison of phenotyping and HFE genotyping}, author={James C Barton and Barry E. Rothenberg and Luigi F. Bertoli and Ronald T. Acton}, journal={Genetics in Medicine}, year={1999}, volume={1}, pages={89-93} }