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Risk Stratification-Based Therapy for Children with E-beta Thalassemia: A 20-Year Follow-Up Study.

Kavitha Ganesan1, Suresh Duraisamy2, Anupama Nair2

  • 1Department of Pediatric Hematology, Oncology, Blood, and Marrow Transplantation, Apollo Cancer Hospitals, 320, Padma Complex, Anna Salai, Teynampet, Chennai, Tamil Nadu, 600035, India. kavitha5293dr@gmail.com.

Indian Pediatrics
|May 26, 2025
PubMed
Summary

Nucleated red blood cells (nRBCs) refine Mahidol scoring for E-beta thalassemia. This risk stratification enables personalized follow-up and individualized therapy for affected children, improving outcomes.

Keywords:
Beta-globin geneHydroxyureaIndiaMahidol scoringNon-transfusion-dependent thalassemianRBCs

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Area of Science:

  • Hematology
  • Pediatric Medicine
  • Genetics

Background:

  • Epsilon-beta thalassemia is a significant inherited blood disorder.
  • Accurate risk stratification is crucial for effective management of E-beta thalassemia.
  • Current scoring systems may require refinement for optimal patient care.

Purpose of the Study:

  • To implement and evaluate a risk stratification-based follow-up strategy for children diagnosed with E-beta thalassemia.
  • To assess the utility of nucleated red blood cells (nRBCs) in conjunction with Mahidol scoring for disease classification.
  • To guide individualized therapeutic approaches for pediatric patients with E-beta thalassemia.

Main Methods:

  • A cohort of 104 children with E-beta thalassemia (August 2002-August 2022) was analyzed.
  • Mahidol scoring was used for initial disease classification (mild, moderate, severe).
  • Nucleated red blood cells (nRBCs) were used to refine categorization within the moderate group, leading to recategorization into mild-to-moderate or moderate-to-severe phenotypes.

Main Results:

  • Initial classification: 29% mild, 44% moderate, 27% severe.
  • Recategorization based on nRBCs adjusted the classification for a significant portion of the moderate group.
  • Treatment modalities included hydroxyurea (HU) for mild/moderate cases and regular transfusions for severe cases. At follow-up, 72% of mild-to-moderate cases remained well on HU, while 28% of moderate-to-severe cases continued regular transfusions.

Conclusions:

  • The integration of nRBC counts with Mahidol scoring provides a more precise tool for risk stratification in E-beta thalassemia.
  • This enhanced stratification allows for individualized treatment plans, optimizing patient management.
  • Personalized follow-up strategies based on refined risk assessment can improve clinical outcomes for children with E-beta thalassemia.