Journal
JOURNAL OF HEPATOLOGY
Volume 36, Issue 6, Pages 851-856Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/S0168-8278(02)00042-9
Keywords
ceruloplasmin; iron overload; liver; deferoxamine; iron chelation
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Aceruloplasminemia is an autosomal recessive disease of iron overload associated with mutation(s) in the ceruloplasmin gene. We report here a new case of aceruloplasminemia in a woman who is a compound heterozygote for two new mutations. Besides this novel genotypic profile, this observation provides new insights on: (i) iron metabolism with normal erythroid repartition, in the absence of serum non-transferrin-bound iron and with an increase of Fe-59 plasma clearance; (ii) hepatic abnormalities associated with the presence of iron-free foci; (iii) the therapeutic management of the disease, chronic subcutaneous infusion of deferrioxamine being remarkably effective at reducing hepatic iron overload. (C) 2002 European Association for the Study of the Liver. Published by Elsevier Science B.V. All rights reserved.
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