Blood Res 2017; 52(2): 84-94  https://doi.org/10.5045/br.2017.52.2.84
Diagnostic approaches for inherited hemolytic anemia in the genetic era
Yonggoo Kim, Joonhong Park, and Myungshin Kim*

Department of Laboratory Medicine, Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Correspondence to: Myungshin Kim, M.D., Ph.D. Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea. microkim@catholic.ac.kr
Received: March 8, 2017; Revised: May 24, 2017; Accepted: May 25, 2017; Published online: June 22, 2017.
© The Korean Journal of Hematology. All rights reserved.

Abstract

Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified into the three major disorders of membranopathies, hemoglobinopathies, and enzymopathies. Traditional diagnosis of IHA has been performed via a step-wise process combining clinical and laboratory findings. Nowadays, the etiology of IHA accounts for germline mutations of the responsible genes coding for the structural components of RBCs. Recent advances in molecular technologies, including next-generation sequencing, inspire us to apply 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 provide an overview of the preparations for clinical applications of the new molecular technologies.

Keywords: Inherited hemolytic anemia, Genetic testing, Next-generation sequencing


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