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, Clara Camaschella

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)2246-2248
Number of pages3
Issue number6
Publication statusPublished - Sep 15 2002

ASJC Scopus subject areas

  • Hematology


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