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Residual Genetic Material in Mature Red Blood Cells
Georgios Dryllis1, Sotirios P Fortis1, Aspasia Kouroupaki1
1Laboratory of Reliability and Quality Control in Laboratory Hematology (HemQcR), Department of Biomedical Sciences, School of Health and Caring Sciences, University of West Attica (UniWA), 12243 Athens, Greece.
International Journal of Molecular Sciences
|November 13, 2025
Summary
Mature red blood cells (RBCs) contain residual DNA and RNA, challenging their anucleate status. This genetic material influences cellular function, immune responses, and offers potential for non-invasive disease biomarkers.
Area of Science:
- Hematology
- Molecular Biology
- Immunology
Background:
- Mature erythrocytes (red blood cells, RBCs) are traditionally considered anucleate.
- Recent findings reveal the presence of residual genetic material, including mitochondrial DNA (mtDNA) and various RNA fragments, within RBCs.
Purpose of the Study:
- To review the role of residual genetic material in mature RBCs.
- To explore its implications in cellular function, diagnostics, and erythropoiesis.
Main Methods:
- Comprehensive literature review focusing on erythropoiesis, RBC enucleation, and the presence/function of DNA and RNA in RBCs.
Main Results:
- Mature RBCs contain small amounts of DNA and diverse RNA species (mRNA, miRNA, non-coding RNAs).
- Residual DNA can function as damage-associated molecular patterns (DAMPs), potentially triggering immune responses.
- RNA fragments reflect precursor cell activity and show promise as non-invasive biomarkers for diseases like diabetes, cardiovascular conditions, and hematological disorders.
Conclusions:
- Residual genetic material in RBCs extends their known functions beyond oxygen transport.
- This material plays a role in immune modulation.
- RBC-derived genetic signatures offer novel diagnostic and therapeutic opportunities for disease detection and understanding erythropoiesis.
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