Diagnostic approaches for inherited hemolytic anemia in the genetic era

• Published in: Blood research Vol. 52; no. 2; pp. 84 - 94
• Main Authors: Kim, Yonggoo, Park, Joonhong, Kim, Myungshin
• Format: Journal Article
• Language: English
• Published: Switzerland Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis 01.06.2017; 대한혈액학회
• Subjects: Review; 병리학; Inherited hemolytic anemia; Next-generation sequencing; Genetic testing
• ISSN: 2287-979X; 2288-0011
• DOI: 10.5045/br.2017.52.2.84

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.