An infant case of sideroblastic anemia that responded to oral pyridoxine

An 8-month-old boy was admitted because of paleness. Laboratory studies disclosed microcytic and hypochromic anemia: red blood cell count 156 x 10(4)/microliter, hemoglobin 3.5 g/dl, mean cell volume 66 fl, and reticulocytes 0.5/1000. Serum iron was 433 micrograms/dl and exocrine pancreatic dysfunction was not observed. Examination of bone marrow revealed prominent erythroid hyperplasia; 18% of the erythroblasts were distinct ringed sideroblasts. Electron microscopic studies found intramitochondrial iron deposits in the erythroblasts. The patient was given a diagnosis of sideroblastic anemia and responded to oral pyridoxine (50 mg/day) with an immediate increase of reticulocytes to 97/1000, resulting in an improved hemoglobin concentration. He has maintained remission for more than 1 year following discontinuation of pyridoxine, which was administered for 2 months. Congenital sideroblastic anemia is relatively rare and mostly occurs in males, suggesting an X-linked recessive mode of inheritance. Recently, X-linked sideroblastic anemia has been shown to be caused by missense mutations in the delta-aminolevulinic acid synthase (ALAS) gene. A point mutation in exon 5 of the ALAS gene was found in this patient. Iron-deficiency anemia is the most common hematologic disease of infancy and childhood, resulting from lack of sufficient iron for synthesis of hemoglobin. It is therefore mandatory to differentiate sideroblastic anemia from iron-deficiency anemia and other common anemias.