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Prepublished online as a Blood First Edition Paper on May 17, 2002; DOI 10.1182/blood-2002-02-0584.
Submitted February 26, 2002
Accepted April 16, 2002
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*
Clinical and Biological Sciences, University of Turin, Orbassano (TO), Italy
San Luigi Hospital, Pathology Department, Orbassano (TO), Italy
Gastroenterology Department, University of Turin, Turin, Italy
Neurosciences Department, University of Pisa, Pisa, Italy
* Corresponding author; email: clara.camaschella{at}unito.it.
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 Caucasian woman with heavy liver iron overload, diabetes, anemia and neurological symptoms, compound heterozygote for two 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 Caucasians, aceruloplasminemia should be considered in the differential diagnosis of unexplained anemia associated with iron overload, since these features anticipate progressive neurological 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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