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

Purpose: We wanted to compare phenotyping and HFE genotyping for diagnosis of hemochromatosis in 150 family members of 61 probands. Methods: Phenotype s were defined by persistent transferrin saturation elevation, iron overloa d, or both; genotypes were defined by HFE mutation analysis. Results: Twent y-five family members were C282Y homozygotes; 23 of these (92%) had a hemoc hromatosis phenotype. Twenty-three family members had HFE genotype C282Y/H6 3D; eight of these (35%) had a hemochromatosis phenotype. Six of 102 (6%) f amily members who inherited other HFE genotypes had a hemochromatosis pheno type. Conclusion: Phenotyping and genotyping are complementary in diagnosin g hemochromatosis among family members of probands.