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 genetic disorders, incorporation of next-generation sequencing (NGS) has facilitated the diagnostic process of HHA.

Method

Genetic data from 29 patients with suspected hereditary anemia in a tertiary hospital were retrospectively reviewed to evaluate the efficacy of NGS on hereditary anemia diagnosis. Targeted NGS was performed with custom probes for 497 genes associated with hematologic disorders. After genomic DNA was extracted from peripheral blood, prepared libraries were hybridized wi

SUBMITTER: Choi YJ 

PROVIDER: S-EPMC10496260 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature