Article
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia.
Blood cells, molecules & diseases - 1 Jul 2016
Utsugisawa Taiju, Uchiyama Toshitaka, Toki Tsutomu, Ogura Hiromi, Aoki Takako, Hamaguchi Isao, Ishiguro Akira, Ohara Akira, Kojima Seiji, Ohga Shouichi, Ito Etsuro, Kanno Hitoshi
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia with mutations in ribosomal protein (RP) genes. Elevated activity of erythrocyte adenosine deaminase (eADA) has been utilized as a biomarker of DBA. We examined erythrocyte reduced glutathione (GSH) as well as eADA in 22 patients in 18 DBA families, in whom RP gene mutations had been identified. Simultaneous evaluation of both eADA and GSH...
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