Abstract
Hereditary hemolytic anemia (HHA) is a group of heterogeneous genetic conditions that are usually caused by pathogenic variants in genes encoding red blood cell (RBC) cytoskeleton proteins, RBC enzymes, and globins. In addition, congenital dyserythropoietic anemias (CDAs) typically present with a phenotype of hemolytic anemia. To utilize the advantages of next generation sequencing (NGS), a 38-gene panel was designed and incorporated in our clinical lab, encompassing 16 genes responsible for RBC membrane disorders, 14 genes responsible for RBC enzymopathies and 8 genes for CDAs.
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