Atransferrinemia is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.

The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale).

[5] The presentation of this disorder entails anemia, arthritis, hepatic anomalies, and recurrent infections are clinical signs of the disease.

[1] Iron overload occurs mainly in the liver, heart, pancreas, thyroid, and kidney.

[2] Transferrin is a serum transport protein that transports iron to the reticuloendothelial system for utilization and erythropoiesis, since there is no transferrin in atransferrinemia, serum free iron cannot reach reticuloendothelial cells and there is microcytic anemia.