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Prepublished online as a Blood First Edition Paper on May 17, 2002; DOI 10.1182/blood-2002-02-0584.
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Blood, 15 September 2002, Vol. 100, No. 6, pp. 2246-2248
BRIEF REPORT
Anemia and iron overload due to compound heterozygosity for novel
ceruloplasmin mutations
Sandra Bosio,
Marco De
Gobbi,
Antonella Roetto,
Gabriella Zecchina,
Eugenio Leonardo,
Mario Rizzetto,
Claudio Lucetti,
Lucia Petrozzi,
Ubaldo Bonuccelli, and
Clara Camaschella
From the Dipartimento di Scienze Cliniche e Biologiche,
and Dipartimento di Gastroenterologia, Università di Torino,
Turin, Italy; Dipartimento di Patologia, Azienda Sanitaria Ospedaliera
San Luigi-Orbassano, Turin, Italy; and Dipartimento di Neuroscienze,
Università di Pisa, Pisa, Italy.
Aceruloplasminemia is a recessive disorder characterized by anemia,
iron overload, and neurodegeneration, caused by the absence of
ceruloplasmin (Cp), a multicopper oxidase important for iron export.
Few patients homozygous for loss of function mutations of the Cp gene
have been reported. We describe a 62-year-old white woman with heavy
liver iron overload, diabetes, anemia, and neurologic symptoms. She was
compound heterozygote for 2 novel mutations that result in the absence
of hepatocyte Cp: an adenine insertion at nucleotide 2917 causing a
truncated protein and a C-G transversion causing a glutamine glutamic
acid substitution at position 146. Although rare in whites,
aceruloplasminemia should be considered in the differential diagnosis
of unexplained anemia associated with iron overload, because these
features anticipate progressive neurologic symptoms. We propose that
anemia, secondary to the impaired macrophage iron release, plays a
major role in hepatic iron overload through increased absorption
mediated by the erythroid regulator.
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