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

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.

Longitudinal follow‐up of patients with thalassaemia intermedia who started transfusion therapy in adulthood: a cohort study

“…Interestingly, these patients had lower blood consumption with respect to patients with TM enrolled in the MIOT project [mean (SD) 102·02 (74·08) vs. 176·75 (51·91) ml/kg/year; P < 0·0001), thus suggesting the permanence of a residual higher erythropoietic drive. Following the start of BTs, we found not only the down‐regulation of all erythropoietic and/or haemolysis indices, 26‐28 but also a drop in platelets and white blood cell count, indicating a complex and pleiotropic effect on bone marrow function. On the other hand, renal function was not affected, likely because most patients had normal creatinine and were not hyperfiltrating at baseline.…”

Is there a difference in phenotype between males and females with non-transfusion-dependent thalassemia? A cross-sectional evaluation

“…Median age was similar in the two groups (p > 0.05). Hemoglobin levels were significantly lower (p < 0.01) in females, while ineffective erythropoiesis and expanded erythropoiesis biomarkers, such as soluble transferrin receptor (sTfR) [7] and nucleated red blood cells (NRBC), were comparable. There was no significant difference for other laboratory parameters, except for serum creatinine and uric acid levels, which were lower in females, according to data reported in the general population.…”

Longitudinal trend analysis of serum transferrin receptor‐1 level in a cohort of patients affected by non‐transfusion dependent thalassaemia

“…Despite the availability of recent guidelines from the Thalassaemia International Federation (TIF), the proper management of patients with non‐transfusion dependent thalassaemia (NTDT) is still under debate (Taher et al , ; Ricchi et al , ). We previously showed that the soluble transferrin receptor‐1 (sTfR1) level, was a reliable biomarker for predicting the risk of extramedullary haematopoiesis (EMH) and for scoring disease severity (Ricchi et al , , , , , ). The purpose of this study is to further validate its use, based on a longer term prospective assessment among our NTDT patients.…”

“…Of the 16 and 12 patients who underwent BT and HC treatment, 12 and 11 had the combination of a β defect plus a β chain variant, respectively ( P < 0·001; Table ). Serum levels of sTfR1 were determined at a median of once a year and at least 2 months from the previous transfusion, as previously described (Ricchi et al , ). Intra‐individual variability of sTfR1 was assessed in all groups, evaluating the intra‐person over time percentage coefficient of variation (% CV).…”