Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia

S. Fargion, L. Valenti, A. L. Fracanzani, M. Sampietro, M. D. Cappellini, A. Scaccabarozzi, D. Soligo, C. Mariani, G. Fiorelli

Research output: Contribution to journalArticlepeer-review


Congenital dyserythropoietic anemias ( CDAs ) are a rare and heterogeneous group of chronic anemias characterized by ineffective erythropoiesis, dyserythropoiesis. mild hemolysis with anemia of variable degree, severe iron overload related lo repeated transfusions or to increased iron absorption due to ineffective erythropoiesis. However, because clinical and laboratory findings may be subtle, patients with CDAs are easily unrecognized or misdiagnosed. We describe the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromalosis. After she developed severe anemia following a few phlebotomies, she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type 11. Only genetic testing allowed the definition of the coexistence of the two diseases. both responsible for iron overload. This report 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 our knowledge, this is the first report of homozygosity for the C282Y mutation of HFE gene in a patient affected by congenital dyserythropoietic anemia.

Original languageEnglish
Issue number11 PART II
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Hematology


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