Congenital hypochromic microcytic anaemia with iron overload of the liver and hyperferraemia.

Two sisters had a congenital hypochromic anaemia in spite of hyperferraemia with a fully saturated serum transferrin, and in spite of heavy iron deposits in the liver. Bone marrow iron was reduced. The anaemia was markedly increased during pregnancy, when each of the sisters needed 8 blood transfusions. Erythrokinetic studies were compatible with hypoplastic anaemia. The bone marrow, however, was hyper-cellular with an increased erythropoiesis. Our patients resembled the two patients described by Shahid & Diamond (1964). It is postulated that the cause of the disease is a congenital defect in the one-way transport mechanism for iron from transferrin and into the erythroid cell.