Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia

Silvia Fargion, Luca Valenti, Anna Ludovici Fracanzani, Maurizio Sampierto, Maria Domenica Cappellni, Anna Scaccabarozzi, Davide Soligo, Chiara Mariani, Gemino Fiorelli

Research output: Contribution to journalArticlepeer-review

Abstract

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the 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 the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFEgene in a patient affected by congenital dyserythropoietic anemia. (C) 2000 by The American Society of Hematology.

Original languageEnglish
Pages (from-to)3653-3655
Number of pages3
JournalBlood
Volume96
Issue number10
Publication statusPublished - Nov 15 2000

ASJC Scopus subject areas

  • Hematology

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