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

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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… Click to show full abstract

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.

Keywords: hereditary hemolytic; clinical utility; utility targeted; next generation; targeted next; generation sequencing

Journal Title: European Journal of Haematology
Year Published: 2023

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