Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping.
OBJECTIVE
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.


CONCLUSIONS
Phenotyping and genotyping are complementary in diagnosing hemochromatosis among family members of probands.
Barton
J C
JC
Southern Iron Disorders Center, Birmingham, Alabama 35209, USA. ironmd@mem.po.com
Rothenberg
B E
BE
Bertoli
L F
LF
Acton
R T
RT
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005293:Ferritins / Q000097:blood; D005787:Gene Frequency; D005805:Genes, MHC Class I / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006680:HLA Antigens / Q000097:blood / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000097:blood / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000097:blood / Q000235:genetics; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014168:Transferrin / Q000378:metabolism
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D005293:Ferritins; D007501:Iron