Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis, Se vere anemia developed after a few phlebotomies, and she was also found to h ave congenital dyserythropoietic anemia that, though not completely typical , resembled type II. Only genetic testing allowed the definition of the coe xistence of the 2 diseases, both responsible for the iron overload. This re port points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely , to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the author s' knowledge, this is the first report of homozygosity for the C282Y mutati on of the HFE gene in a patient affected by congenital dyserythropoietic an emia. (C) 2000 by The American Society of Hematology.