Hemolytic anemia as first presentation of Wilson’s disease with uncommon ATP7B mutation

International Journal of Clinical and Experimental Medicine

Li-Ping Mao¹  Hong-Yan Tong¹  Yin-Jun Lou¹  Xing-Nong Ye¹ 

关键词: Hemolytic anemia;    Wilson’s disease;    ATP7B;   

DOI  :  

学科分类：医学（综合）

来源: e-Century Publishing Corporation

【 摘 要 】

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.

【 授权许可】

Unknown