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Development of a new disease severity scoring system for patients with non-transfusion-dependent thalassemia

Published:November 03, 2015DOI:https://doi.org/10.1016/j.ejim.2015.10.003

      Highlights

      • We describe a disease severity scoring system for adult and pediatric NTDT patients.
      • Consensus of expert opinion was used to establish the scoring system.
      • 20 parameters were selected for inclusion with an extra six for pediatric patients.
      • The system may be developed into a practical tool for widespread clinical use.

      Abstract

      Background

      Patients with non-transfusion-dependent thalassemia (NTDT) present with a spectrum of disease severities. Since there are multiple pathophysiologies in such patients, tailoring treatment remains essential. Therefore, one simple, reliable tool would be beneficial to assess disease severity and tailor therapy, particularly for internal medicine specialists who may treat a variety of NTDT patients with a multitude of complications. This would allow for standardization of assessments leading to timely interventions and prevention of complications.

      Methods

      A working group of NTDT experts was formed to develop a new disease severity scoring system for adult and pediatric patients with NTDT, based on parameters considered to be most pertinent in defining disease severity.

      Results

      20 parameters were selected for inclusion in the disease severity scoring system. An additional six parameters, largely related to growth and development, were selected specifically for pediatric patients (≤16 years of age). Consensus of expert opinion was used to establish the selected methods of assessment for each parameter, based on feasibility and availability of technology, cost containment, and avoidance of patient risk.

      Conclusion

      We propose that this new disease severity scoring system for adult and pediatric NTDT patients could be developed into a practical tool for widespread clinical use.

      Abbreviations:

      ALT (alanine aminotransferase), dw (dry weight), ELISA (enzyme-linked immunosorbent assay), eGFR (estimated glomerular filtration rate), Hb (hemoglobin), LIC (liver iron concentration), LVEF (left ventricular ejection fraction), MRI (magnetic resonance imaging), N/A (not available), MCID (minimum clinically important difference), NTDT (non-transfusion-dependent thalassemia), NYHA (New York Heart Association), PHT (pulmonary hypertension), QoL (quality of life), RNA (ribonucleic acid), SF (serum ferritin), TRV (tricuspid regurgitation jet velocity), ULN (upper limit of normal)

      Keywords

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