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BRIEF REPORT
From the Dipartimento di Medicina Interna and
Dipartimento di Ematologia, Università di Milano, Ospedale
Maggiore IRCCS, Milano, Italy.
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 HFE gene in a patient affected by congenital dyserythropoietic anemia. This article has been cited by other articles:
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| Copyright © 2000 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
