Contributions
Abstract: PB2491
Type: Publication Only
Background
Non-transfusion-dependent thalassemias (NTDT) are a wide group of inherited disorders grouped together only by the fact that their phenotypic expression rarely or occasionally requires regular transfusions. The soluble transferrin receptor-1 (sTfR1), that fully reflects the marrow erythropoietic activity, had not only a striking diagnostic accuracy in predicting the risk of extramedullary hematopoiesis (EMH), but also in scoring disease severity. Our prospective data in NTDT patients showed previously that sTfR1 levels were unchanged following iron chelation therapy when ferritin level was clearly and significantly decreased.
Aims
Our aim was to explore the longitudinal trend of sTfR1 levels in a wide cohort of patients with NTDT followed at U.O.S.D. Rare Red Blood Cells Diseases of Ospedale Cardarelli (Naples, Italy)
Methods
Until today, 104 NTDT patients have been undergoing since 2007 the measurement of the sTfR1 levels about twice a year. During the observation period, based on several complications treatment and/or prevention, such as extramedullary hematopoiesis, cardiomiopathy, pulmonary hypertension and fatigue, 16 patients were started on regular blood transfusion (BT) therapy and 12 on hydroxyurea (HU) and 76 have never been treated (controls). Basal and final values were considered those at the first and last assessment for controls (CTRLs), respectively. For patients who were started on transfusion or HU, basal and final values were considered those assessed just before and following about 12 months of both treatments.
Results
Patients treated with BT were older than CTRLs (median value 48.3 vs 38.2 years old, p=0.005). Patients treated with BT and HU at baseline had higher sTfR1 median levels as compared to CTRLs (11.8 and 8.7 vs 5.1 mg/ml; p<0.001 and p<0.001, respectively). sTfR1 median levels were unchanged (median observation time: 5.78 years) among CTRLs: 5.1 vs 4.9 mg/ml (median reduction=-0.2, p=0.55). sTfR1 median levels were also unmodified among BT and HU groups, before the start of treatments. Conversely, following the start of treatments, we observed a statistically significant reduction in STfr1 levels in both population. In patients treated with BT, the median levels dropped of 5.6 mg/ml from a median value of 8.1 to a median value of 5.9 mg/ml (p=0.00023) with a median 50% of reduction with respect to baseline (p=0.00003). Whereas, in patients treated with HU, the median levels dropped of 4 mg/ml to a median value of 8.35 mg/ml (p=0.005) with a median 32% of reduction with respect to baseline (p=0.003)
Conclusion
Our data among CTRLs show that the sTfR1 level remains unchanged over a long period of observation and suggest that it could be a reliable marker of the disease since its first measurement. But, in a prospective evaluation, these data highlight that increased sTfR1 levels are associated with the risk of undergoing BT and HU treatment. We found also that these fundamental treatments for the management of patients with NTDT are able to significantly reduce sTfR1 levels. Further studies are needed to evaluate if, consistently with our previous findings, such a conspicuous drop in sTfR1 levels following both treatments could be also predictive of reduction and/or prevention of the complications typical of NTDT patients
Session topic: 28. Thalassemias
Keyword(s): Blood transfusion, Hydroxyurea, Thalassemia
Abstract: PB2491
Type: Publication Only
Background
Non-transfusion-dependent thalassemias (NTDT) are a wide group of inherited disorders grouped together only by the fact that their phenotypic expression rarely or occasionally requires regular transfusions. The soluble transferrin receptor-1 (sTfR1), that fully reflects the marrow erythropoietic activity, had not only a striking diagnostic accuracy in predicting the risk of extramedullary hematopoiesis (EMH), but also in scoring disease severity. Our prospective data in NTDT patients showed previously that sTfR1 levels were unchanged following iron chelation therapy when ferritin level was clearly and significantly decreased.
Aims
Our aim was to explore the longitudinal trend of sTfR1 levels in a wide cohort of patients with NTDT followed at U.O.S.D. Rare Red Blood Cells Diseases of Ospedale Cardarelli (Naples, Italy)
Methods
Until today, 104 NTDT patients have been undergoing since 2007 the measurement of the sTfR1 levels about twice a year. During the observation period, based on several complications treatment and/or prevention, such as extramedullary hematopoiesis, cardiomiopathy, pulmonary hypertension and fatigue, 16 patients were started on regular blood transfusion (BT) therapy and 12 on hydroxyurea (HU) and 76 have never been treated (controls). Basal and final values were considered those at the first and last assessment for controls (CTRLs), respectively. For patients who were started on transfusion or HU, basal and final values were considered those assessed just before and following about 12 months of both treatments.
Results
Patients treated with BT were older than CTRLs (median value 48.3 vs 38.2 years old, p=0.005). Patients treated with BT and HU at baseline had higher sTfR1 median levels as compared to CTRLs (11.8 and 8.7 vs 5.1 mg/ml; p<0.001 and p<0.001, respectively). sTfR1 median levels were unchanged (median observation time: 5.78 years) among CTRLs: 5.1 vs 4.9 mg/ml (median reduction=-0.2, p=0.55). sTfR1 median levels were also unmodified among BT and HU groups, before the start of treatments. Conversely, following the start of treatments, we observed a statistically significant reduction in STfr1 levels in both population. In patients treated with BT, the median levels dropped of 5.6 mg/ml from a median value of 8.1 to a median value of 5.9 mg/ml (p=0.00023) with a median 50% of reduction with respect to baseline (p=0.00003). Whereas, in patients treated with HU, the median levels dropped of 4 mg/ml to a median value of 8.35 mg/ml (p=0.005) with a median 32% of reduction with respect to baseline (p=0.003)
Conclusion
Our data among CTRLs show that the sTfR1 level remains unchanged over a long period of observation and suggest that it could be a reliable marker of the disease since its first measurement. But, in a prospective evaluation, these data highlight that increased sTfR1 levels are associated with the risk of undergoing BT and HU treatment. We found also that these fundamental treatments for the management of patients with NTDT are able to significantly reduce sTfR1 levels. Further studies are needed to evaluate if, consistently with our previous findings, such a conspicuous drop in sTfR1 levels following both treatments could be also predictive of reduction and/or prevention of the complications typical of NTDT patients
Session topic: 28. Thalassemias
Keyword(s): Blood transfusion, Hydroxyurea, Thalassemia