Diagnostic approaches for inherited hemolytic anemia in the genetic era

다국어 초록 (Multilingual Abstract)

Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. The RBC abnor-malities are classified into the three major disorders of membranopathies, hemo-globinopathies, and enzymopathies. Traditional diagnosis of IHA has been per-formed via a step-wise process combining clinical and laboratory findings. Nowadays, the etiology of IHA accounts for germline mutations of the respon-sible genes coding for the structural components of RBCs. Recent advances in molecular technologies, including next-generation sequencing, inspire us to ap-ply these technologies as a first-line approach for the identification of potential mutations and to determine the novel causative genes in patients with IHAs. We herein review the concept and strategy for the genetic diagnosis of IHAs and pro-vide an overview of the preparations for clinical applications of the new molecular technologies.

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