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Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

24 Feb 2023

Abstract excerpt

Abstract Introduction Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell (RBC) cytoskeleton, RBC enzyme deficiencies, and hemoglobin (Hb) synthesis disorders such as thalassemia or sideroblastic anemia. Materials and Methods Our hemolytic anemia diagnostic next‐generation sequencing (NGS) panel includes 28 genes encoding RBC cytoskeletal...

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PMID: 36825813
DOI: 10.1111/ejh.13951

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