Percent transferrin saturation in segregating hemochromatosis

I. B. Borecki, D. C. Rao, J. Yaouanq, J. M. Lalouel

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish
Pages (from-to)301-305
Number of pages5
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1990


  • disease marker
  • heterozygote expression


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