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Distribution of Transferrin Saturations in the African-American Population

Victor R. Gordeuk, Christine E. McLaren, Anne C. Looker, Victor Hasselblad, and Gary M. Brittenham

From the Department of Medicine, The George Washington University Medical Center, Washington D.C.; the Department of Mathematics, Moorhead State University, Moorhead MN; the Nutrition Statistics Branch, National Center for Health Statistics, Hyattsville MD; the Center for Health Policy Research and Education, Duke University, Durham, NC; and the Department of Medicine, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland OH.

To determine if transferrin saturations in African Americans may reflect the presence of a gene that influences iron metabolism, we analyzed the distribution of these values in 808 African Americans from the second National Health and Nutrition Survey. We tested for a mixture of three normal distributions consistent with population genetics for a major locus effect in which the proportion of normal homozygotes is p2; of heterozygotes, 2pq; of affected homozygotes, q2; and in which p+q = 1. Three subpopulations based on transferrin saturation were present (P < .0001) and the fit to a mixture of three normal distributions was good (P = .2). A proportion of .009 was included in a subpopulation with a mean ± standard deviation transferrin saturation of 63.4% ± 5.7% (postulated homozygotes for a gene that influences iron metabolism), while a proportion of .136 had an intermediate saturation of 38.0% ± 5.7% (postulated heterozygotes) and .856 a saturation of 24.6% ± 5.7% (postulated normal homozygotes). These proportions were consistent with population genetics because the sum of the square roots of the proportions with the lowest mean transferrin saturation (P = .925) and the highest (q = 0.093) was approximately 1 (1.018). The results are consistent with the presence in African Americans of a common locus that influences iron metabolism.

Blood, Vol. 91 No. 6 (March 15), 1998: pp. 2175-2179
© 1998 by The American Society of Hematology.


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