title: Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
abstract: Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder.
authors.affiliation: Department of Hematology, First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou, Zhejiang Province, P. R. China.
authors.forename: Xing-Nong
authors.initials: XN
authors.lastname: Ye
authors.affiliation: Department of Hematology, First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou, Zhejiang Province, P. R. China.
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Mao
authors.affiliation: Department of Hematology, First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou, Zhejiang Province, P. R. China.
authors.forename: Yin-Jun
authors.initials: YJ
authors.lastname: Lou
authors.affiliation: Department of Hematology, First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou, Zhejiang Province, P. R. China.
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Tong
keywords: ATP7B; Hemolytic anemia; Wilson’s disease