Kr. Hartman et Ja. Barker, MICROCYTIC ANEMIA WITH IRON MALABSORPTION - AN INHERITED DISORDER OF IRON-METABOLISM, American journal of hematology, 51(4), 1996, pp. 269-275
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.