Atransferrinemia is a severe deficiency of the plasma iron-binding protein transferrin, due to mutations that truncate or alter the coding sequence of the transferrin gene. As a result, erythroid precursors are iron-starved and severe anemia results. Paradoxically, all non-hematopoietic tissues are iron-loaded, probably because intestinal iron absorption is enhanced to try to provide more iron to erythroid precursors and because non-transferrin-bound iron is avidly taken up by many parenchymal cell types. This disorder can be treated by transfusion of packed red blood cells or, more appropriately, by infusion of human transferrin.
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