Article
Percent transferrin saturation in segregating hemochromatosis.
American journal of medical genetics - 1 Jul 1990
Borecki I B, Rao D C, Yaouanq J, Lalouel J M
Abstract excerpt
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.
Topics
- Adult
- Female
- Genetic Carrier Screening
- Hemochromatosis
- Homozygote
- Humans
- Male
- Pedigree
- Phenotype
- Transferrin