SERUM TRANSFERRIN RECEPTOR IN HEREDITARY HEMOCHROMATOSIS AND AFRICAN SIDEROSIS

The present investigation evaluated the serum transferrin receptor con centration in subjects with nontransfusional iron overload who were id entified in two separate studies on the basis of a serum ferritin leve l above 400 mu g/L. Subjects with preclinical hereditary hemochromatos is were evaluated in the first study and those with the African form o f Iron overload in the second. In the first study, hereditary hemochro matosis was identified in 14 white men on the basis of a persistent el evation in transferrin saturation above 55%. The serum receptor concen tration was elevated above the upper cut-off of 8.5 mg/L in two of the subjects, but the mean receptor of 6.1 +/- 1.4 mg/L (mean +/- 2 SE) d id not differ significantly from the normal mean for this assay of 5.6 +/- 0.3 mg/L. In the same study, 60 control subjects with secondary i ron overload were identified on the basis of a serum ferritin persiste ntly above 400 mu g/L, with a normal serum C-reactive protein concentr ation but with a transferrin saturation <55%. Three of these subjects had an elevated serum receptor concentration but the mean value of 5.5 +/- 0.4 mg/L did not differ from normals nor from subjects with hemoc hromatosis. In the second study, 49 black Africans with iron overload were divided into those with or without an elevated transferrin satura tion. The mean serum receptor concentration of 5.0 +/- 0.8 mg/L and 4. 5 +/- 0.4 mg/L, respectively, did not differ statistically. It was con cluded that there is no evidence of generalized dysregulation of the t ransferrin receptor in hemochromatosis or African siderosis. (C) 1994 Wiley-Liss, Inc.