Percent transferrin saturation in segregating hemochromatosis.
The segregation of genetic hemochromatosis was analyzed by using percent transferrin saturation (TS) as a phenotypic marker of the disease. Homozygotes for the disease were readily discernable with the added information provided by the quantitative indicator. However, there was no evidence of partial expression of TS abnormalities in heterozygotes, contrary to previous studies.
Borecki
I B
IB
Division of Biostatistics, Washington University School of Medicine, St. Louis, MO 63110.
Rao
D C
DC
Yaouanq
J
J
Lalouel
J M
JM
D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014168:Transferrin / Q000378:metabolism*
D014168:Transferrin