Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.

Namsu Kim,Tae Yun Kim,Ji Yoon Han,Joonhong Park

Diagnostics (Basel, Switzerland)（2023）

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摘要

This study provides a snapshot of the genetic alterations in a cohort of Korean HHA individuals and demonstrates the clinical utility of using gene panels in HHA. Genetic results can provide precise clinical diagnosis and guidance regarding medical treatment and management for some individuals.

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关键词

ANK1 gene,EPB41 gene,HBB gene,Ion Torrent PGM™ Dx System,SPTB gene,gene panel sequencing,hereditary hemolytic anemia

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