Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient

作者：Gang Liu, Shanshan Guo, Gregory J. Anderson, Clara Camaschella, Bing Han, Guangjun Nie · 发表于：Blood · 年份：2014 · DOI：10.1182/blood-2014-08-598508 · 被引用次数：46 · 研究领域：Porphyrin Metabolism and Disorders、Folate and B Vitamins Research、Heme Oxygenase-1 and Carbon Monoxide

Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient GLRX5 is a 156-amino-acid mitochondrial protein that plays an essential role in the synthesis of Fe-S clusters. 1 Sideroblastic anemia caused by GLRX5 deficiency has been reported in a single patient with GLRX5 messenger RNA splicing defect. In this study, we report a Chinese congenital sideroblastic anemia (CSA) patient who is a compound heterozygote for 2 missense mutations in his GLRX5 gene.