Article
Genotype-degree of hemolysis correlation in hereditary spherocytosis.
BMC genomics - 6 Jun 2023
Shi Yimeng, Li Yuan, Yang Xiawan, Li Xiaoxia, Peng Guangxin, Zhao Xin, Liu Xu, Zhao Yufei, Hu Jing, Hu Xiangrong, Zhang Baohang, Zhou Kang, Yang Yang, Xiong Youzhen, Li Jianping, Fan Huihui, Yang Wenrui, Ye Lei, Jing Liping, Zhang Li, Zhang Fengkui
Abstract excerpt
BACKGROUND: Hereditary spherocytosis (HS) is a common inherited hemolytic anemia, caused by mutations in five genes that encode erythrocyte membrane skeleton proteins. The red blood cell (RBC) lifespan could directly reflect the degree of hemolysis. In the present cohort of 23 patients with HS, we performed next-generation sequencing (NGS) and Levitt's carbon monoxide (CO) breath test to investigate the potential...
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