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. 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.
Fargion
S
S
Dipartimento di Medicina Interna and Dipartimento di Ematologia, Università di Milano, Ospedale Maggiore IRCCS, Milano, Italy. silva.fargion.unimi.it
Valenti
L
L
Fracanzani
A L
AL
Sampietro
M
M
Cappellini
M D
MD
Scaccabarozzi
A
A
Soligo
D
D
Mariani
C
C
Fiorelli
G
G
D000328:Adult; D000368:Aged; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000748:Anemia, Macrocytic / Q000097:blood / Q000209:etiology; D005260:Female; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000097:blood / Q000209:etiology; D007728:Kupffer Cells / Q000378:metabolism / Q000473:pathology; D009035:Mothers; D017354:Point Mutation