Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings *

Abstract

A new type of hypochromic microcytic anemia associated with an error of Fe metabolism was described in 2 siblings. Both children had anemia since infancy, and all therapeutic efforts were unsuccessful. Special investigations, including studies of transferrin and ferrokinetics, showed no defect in transferrin or the qualitative aspects of heme synthesis. Fe stains revealed a marked discrepancy between the Fe storage sites. Although the liver parenchymal cells were surcharged with ferruginous material, the Kupffer cells and the macrophages and erythroid cells in the bone marrow contained non . The existence of Fe-deficient erythrocytes in these patients despite adequate transferrin-Fe complex suggests that this complex does not alone assure Fe delivery to the erythroid bone marrow sufficient for the demands of hemoglobin synthesis.