[Inherited anemias: current approaches to diagnosis and treatment].

Authors

Masataka Ishimura

Published in

[Rinsho ketsueki] The Japanese journal of clinical hematology. Volume 67. Issue 9. Pages 1076-1085.

Abstract

Inherited anemias are a heterogeneous group of disorders caused by pathogenic variants affecting red blood cell production or function and include red blood cell membrane disorders, red blood cell enzymopathies, hemoglobin disorders, and disorders associated with impaired erythropoiesis. Recent advances in next-generation sequencing (NGS) have transformed diagnostic strategies, driving a shift from conventional phenotype-based approaches toward genotype-first diagnostics. However, conventional hematological evaluations, including peripheral blood morphology, enzyme activity assays, and hemoglobin analysis, remain essential for accurate diagnosis and interpretation of genetic findings. In parallel with advances in molecular diagnosis, disease-specific molecular therapies and gene therapy are rapidly evolving, highlighting the growing importance of precision medicine in inherited anemia care. This review summarizes current advances in the classification and pathophysiology of inherited anemias, as well as recent progress in diagnosis and treatment.

PMID:
42951621
Bibliographic data and abstract were imported from PubMed on 29 Oct 2026.

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