TY - JOUR
T1 - Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations
AU - Bosio, Sandra
AU - De Gobbi, Marco
AU - Roetto, Antonella
AU - Zecchina, Gabriella
AU - Leonardo, Eugenio
AU - Rizzetto, Mario
AU - Lucetti, Claudio
AU - Petrozzi, Lucia
AU - Bonuccelli, Ubaldo
AU - Camaschella, Clara
PY - 2002/9/15
Y1 - 2002/9/15
N2 - 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.
AB - 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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U2 - 10.1182/blood-2002-02-0584
DO - 10.1182/blood-2002-02-0584
M3 - Article
C2 - 12200392
AN - SCOPUS:0037105376
VL - 100
SP - 2246
EP - 2248
JO - Blood
JF - Blood
SN - 0006-4971
IS - 6
ER -