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Soluble form of transferrin receptor-1 level is associated with the age at first diagnosis and the risk of therapeutic intervention and iron overloading in patients with non-transfusion-dependent thalassemia

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Abstract

We retrospectively evaluated the relationship between serum transferrin receptor-1 (sTfR1) and some fundamental events in the life and the management (the age at diagnosis, the age at the first red blood cells transfusion, the age at splenectomy, and the overall need of chelation therapy) of 111 patients with non-transfusion-dependent thalassemia (NTDT) subdivided in four genetic entities: patients with homozygous or compound heterozygous state for β-thalassemia, patients with triplicated α genotype associated with β heterozygosity, patients with deletional HbH, and patients with the combination of a β defect plus a β chain variant. We found that the group with homozygous or compound heterozygous state for β-thalassemia had the highest sTfR1 levels and that the presence of increased sTfR1 levels (>5 times normal) was associated with a complex and severe history of disease requiring splenectomy, occasional red blood cells transfusions, and early start and continuous iron chelation therapy.

The complexity in the management of NTDT patients is an emerging issue due to the wide heterogeneity of clinical behavior. Our data indicate that the measurement of sTfR1 levels, a common laboratory test, could contribute to correctly stratify disease history and the iron chelation strategy in NTDT patients.

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Authors and Affiliations

  1. U.O.S.D. Rare Red Blood Cells Diseases, Azienda Ospedaliera di Rilievo Nazionale “A.Cardarelli”, Via A.Cardarelli 9, 80131, Naples, Italy

    Paolo Ricchi, Silvia Costantini, Anna Spasiano, Patrizia Cinque & Aldo Filosa

  2. Magnetic Resonance Imaging Unit, Fondazione G. Monasterio, CNR-Regione Toscana, Pisa, Italy

    Antonella Meloni & Alessia Pepe

  3. UOC Clinical Pathology, AORN Monaldi-Cotugno-CTO, Naples, Italy

    Tiziana Di Matola

Authors
  1. Paolo Ricchi
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  2. Antonella Meloni
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  3. Silvia Costantini
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  4. Anna Spasiano
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  5. Tiziana Di Matola
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  6. Alessia Pepe
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  7. Patrizia Cinque
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  8. Aldo Filosa
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Correspondence to Paolo Ricchi.

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Ricchi, P., Meloni, A., Costantini, S. et al. Soluble form of transferrin receptor-1 level is associated with the age at first diagnosis and the risk of therapeutic intervention and iron overloading in patients with non-transfusion-dependent thalassemia. Ann Hematol 96, 1541–1546 (2017). https://doi.org/10.1007/s00277-017-3057-z

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  • DOI: https://doi.org/10.1007/s00277-017-3057-z

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