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Prognostic Value of MicroRNA Profiles in Septic Patients with Rare Hereditary Anemias: Insights from a Longitudinal
May AlMoshary1,2, Nahid Abdulhamid Qushmaq3, Abba Elgujja4
1Hematology and Transfusion Medicine, Department of Basic Science, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, 11671, Saudi Arabia.
Background:
MicroRNAs (miRNAs) are small molecules that regulate gene expression and may influence the severity and progression of rare hereditary anemias. Understanding their role can support the development of targeted treatments. To our knowledge, this multicenter longitudinal cohort is among the first to characterize miRNA profiles-particularly miR-155-in pediatric patients with rare hereditary anemias presenting with sepsis, and to report exploratory translational observations relevant to gene-based modulation frameworks.
Objective:
This study aimed to profile miRNA expression in septic patients with rare hereditary anemias and evaluate associations with disease severity, progression, and response to gene therapy.
Methods:
This prospective cohort study was conducted at five medical centers in the United States and Saudi Arabia, enrolling 400 participants-200 patients with rare hereditary anemias and 200 healthy controls. Blood samples were analyzed using high-throughput sequencing and advanced bioinformatics. Randomization and blinding procedures were applied to ensure data integrity and minimize bias.
Results:
At baseline enrollment during septic presentation, patients exhibited significantly lower mean hemoglobin levels compared to controls (9.2 g/dL vs 12.5 g/dL, p < 0.001). Patients with hereditary anemia had significantly lower average hemoglobin levels (9.2 g/dL) compared to controls (12.5 g/dL, p < 0.001) and higher reticulocyte counts. miR-155 was upregulated 2.5-fold in affected patients (p < 0.01). These patients required an average of six transfusions annually, compared to none in the control group (p < 0.001). Thirty-five percent of patients experienced worsening anemia over time. ROC curve analysis demonstrated miR-155 as a strong diagnostic biomarker, with 85% sensitivity, 90% specificity, and an AUC of 0.97.
Conclusion:
miR-155 plays a key role in the progression of rare hereditary anemias in septic patients and shows potential as both a diagnostic and therapeutic target. These findings highlight opportunities for personalized, miRNA-based therapies to improve disease management and patient outcomes. No clinically evident severe vector-related adverse events were observed during follow-up.
Clinical Trial Number:
ECRIN-EU-TRIAL-2025-002739.
Insights
MicroRNAs (miRNAs) like miR-155 are key in rare hereditary anemias during sepsis, impacting disease severity. Targeting miR-155 offers potential for novel diagnostic and therapeutic strategies in these patients.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- MicroRNAs (miRNAs) are crucial regulators of gene expression.
- Their role in rare hereditary anemias, particularly during sepsis, is under investigation.
- This study focuses on characterizing miRNA profiles in pediatric patients with these conditions.
Purpose of the Study:
- To profile miRNA expression in septic patients with rare hereditary anemias.
- To assess the association of miRNA expression with disease severity, progression, and treatment response.
- To explore the potential of miRNAs as diagnostic and therapeutic targets.
Main Methods:
- A prospective, multicenter cohort study involving 200 patients with rare hereditary anemias and 200 healthy controls.
- High-throughput sequencing and advanced bioinformatics were used for miRNA analysis.
- Randomization and blinding procedures were implemented to ensure data integrity.
Main Results:
- Septic patients with rare hereditary anemias had lower hemoglobin levels (9.2 g/dL vs. 12.5 g/dL) and higher reticulocyte counts.
- miR-155 was significantly upregulated (2.5-fold) in affected patients (p < 0.01).
- miR-155 demonstrated high diagnostic accuracy (85% sensitivity, 90% specificity, AUC 0.97).
Conclusions:
- miR-155 is implicated in the progression of rare hereditary anemias in septic patients.
- miR-155 shows promise as a diagnostic biomarker and a therapeutic target.
- Findings support the development of personalized, miRNA-based therapies for improved disease management.
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