MICROCYTIC ANEMIA WITH IRON MALABSORPTION - AN INHERITED DISORDER OF IRON-METABOLISM

Two siblings were identified with severe hypoproliferative microcytic anemia and iron malabsorption, in the absence of any gastrointestinal disorder or blood loss. These children had severe microcytosis (MCV 48 fl, hemoglobin 7.5 g/dl) with decreased serum iron, elevated serum TI BC, and decreased serum ferritin, despite prolonged treatment with ora l iron. An iron challenge study with an oral dose of 2 mg/kg elemental iron as ferrous sulfate documented iron malabsorption, After treatmen t with intravenous iron dextran, there was an absence of the expected reticulocytosis and only a partial correction of the hemoglobin, hemat ocrit, and microcytosis. The bone marrow was hypocellular with abnorma l iron incorporation into erythroid precursor cells, This appears to b e a rare form of inherited anemia characterized by iron malabsorption and disordered iron metabolism that only partially corrects after the administration of parenteral iron. These features resemble those found in the microcytic mouse (mk/mk), which also has severe microcytic ane mia and iron malabsorption that partially responds to parenteral iron, (C) 1996 Wiley-Liss, Inc.