Diagnostic Approaches for Inherited Hemolytic Anemia in the Genetic Era

Overview

Journal Blood Res

Publisher Springer Nature

Specialty Hematology

Date 2017 Jul 13

PMID 28698843

Citations 25

Authors

Yonggoo Kim

Joonhong Park

Myungshin Kim

Affiliations

Soon will be listed here.

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.

Citing Articles

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