Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia

Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia

Abstract Background Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to membranopathies, enzymopathies, or hemoglobinopathies. Because these are...

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Bibliographic Details
Main Authors: Yu Jeong Choi, Hongkyung Kim, Won Kee Ahn, Seung-Tae Lee, Jung Woo Han, Jong Rak Choi, Chuhl Joo Lyu, Seungmin Hahn, Saeam Shin
Format: Article
Language:English
Published: BMC 2023-09-01
Series:BMC Medical Genomics
Subjects:
Hereditary hemolytic anemia
Next-generation sequencing
Mutations
Online Access:https://doi.org/10.1186/s12920-023-01648-y

Internet

https://doi.org/10.1186/s12920-023-01648-y

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