Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid lineage. They belong to the wide group of ineffective erythropoiesis conditions that mainly result in monolinear cytopenia. The development of next-generation sequencing represents and improvement of the diagnosis and research of CDAs because represents a reduction in the diagnosis, and ameliorated differential diagnosis in terms of identification of new causative/modifier genes and polygenic conditions.
The work recently published by the ERN-EuroBloodNet members Achille Iolascon, Immacolata Andolfo and Roberta Russo (AOU Federico II di Napoli) reviews the most recent advances in this field regarding the molecular genetics and pathogenic mechanisms of CDAs, through an analysis of the clinical and molecular classifications, and the complications and clinical management of patients. Moreover, they summarize also the main cellular and animal models developed to date, and the possible future therapies.
This work serves to shed light on this topic contributing to the knowledge and better diagnosis of CDA.