Contributions
Abstract: EP1309
Type: E-Poster Presentation
Session title: Thalassemias
Background
β-thalassemia confers a substantial burden on both patients and the healthcare system.
Aims
We systematically quantified the outcomes and disease burden in 2,520 patients with transfusion-dependent thalassemia (TDT) or thalassemia major (TM) receiving regular treatment with red blood cell (RBC) transfusions and iron chelation therapy (ICT).
Methods
The data for this study came from the International Health Repository (IHR) protocol (EudraCT and Sponsor Protocol Code Numbers: 2017-004457-17 and 143AOR2017). This cross-sectional study focused on 3,106 patients with thalassemia presenting at 5 centers in Italy between July 2000 and July 2018, and employed retrospective, cross-sectional analyses of individual patient data at a given date during this timeframe. Here, we present a subgroup analysis of the 2,520 patients in the cohort with TDT.
Results
Of the 2,520 TDT patients included in the analysis 1,107 had a known genotype; in particular, 401 (36.2%) had a β0/β0 genotype, 237 (21.4%) had a IVS-1-110/β0 genotype, 93 (8.4%) had a IVS-1-110/β+ genotype, 133 (12.0%) had a IVS-1-110/IVS-1-110 genotype, 201 (18.2%) were β0/β+, and 42 (3.8%) were β+/β+. The percentage of patients with IVS-1-110 genotype was 41.8%, corresponding to 12.0% homozygous and 29.8% heterozygous patients. The mean age of patients was 36.8 (±10.7) years (range, 2.6-74.0), and 52.6% were females. The mean (range) age at diagnosis, initiation of RBC transfusions, and initiation of ICT was 1.1 (±1.2) years (0.08-13), 2.1 (±2.9) (0.08-43), and 5.1 (±5.1) (0.6-65), respectively.
The median (range) transfusion requirement for TDT patients was 175.0 mg/dL/year (100.7-417), the median of the mean hemoglobin (Hb) level was 9.5 g/L (6-20), and the median serum ferritin was 1003 ng/ml (37.6-12484). More patients (31.7%) underwent chelation with desferrioxamine (DFO), whereas deferiprone (DFP) and deferasirox (DFX) were used in 18.5% and 23.1% of patients, respectively. Furthermore, 19.3% of patients underwent sequential or combined DFO-DFP, 0.6% sequential or combined DFO-DFX, and 0.4% sequential or combined DFP-DFX. Chelation data were not available for 164 patients (6.5%).
Median (range) alanine transaminase (ALT) and aspartate transaminase (AST) levels in TDT patients were 29 IU/L (6-381) and 29 IU/L (7-320), respectively. The median (range) of the cardiac ejection fraction, liver T2*, and cardiac T2* was 64% (24-97), 7.5 ms (0.2-49.6), and 38 ms (0-64), respectively.
Eighty-two percent of TDT patients experienced one or more thalassemia-related complication, with 533 (21.1%) experiencing one complication, 486 (19.3%) experiencing two complications, 424 (16.8%) experiencing three complications, and nearly a quarter (625 patients (24.4%)) experiencing four or more complications. Eighteen percent of patients experienced no complications. The most frequently observed complications were liver complications, followed by splenectomy, osteoporosis, hypogonadism, cardiac complications, hypothyroidism, diabetes, hypoparathyroidism, lung complications, infections, and cancer (Table 1).
Conclusion
In this study, more than 80% of TDT patients experienced one or more disease-related complication, with nearly a quarter of patients experiencing four or more complications. This high rate of complications occurred despite well-managed serum transferrin levels in this patient group. This demonstrates that patients with TDT experience a significant burden of disease, even with appropriate iron chelation.
Keyword(s): Thalassemia
Abstract: EP1309
Type: E-Poster Presentation
Session title: Thalassemias
Background
β-thalassemia confers a substantial burden on both patients and the healthcare system.
Aims
We systematically quantified the outcomes and disease burden in 2,520 patients with transfusion-dependent thalassemia (TDT) or thalassemia major (TM) receiving regular treatment with red blood cell (RBC) transfusions and iron chelation therapy (ICT).
Methods
The data for this study came from the International Health Repository (IHR) protocol (EudraCT and Sponsor Protocol Code Numbers: 2017-004457-17 and 143AOR2017). This cross-sectional study focused on 3,106 patients with thalassemia presenting at 5 centers in Italy between July 2000 and July 2018, and employed retrospective, cross-sectional analyses of individual patient data at a given date during this timeframe. Here, we present a subgroup analysis of the 2,520 patients in the cohort with TDT.
Results
Of the 2,520 TDT patients included in the analysis 1,107 had a known genotype; in particular, 401 (36.2%) had a β0/β0 genotype, 237 (21.4%) had a IVS-1-110/β0 genotype, 93 (8.4%) had a IVS-1-110/β+ genotype, 133 (12.0%) had a IVS-1-110/IVS-1-110 genotype, 201 (18.2%) were β0/β+, and 42 (3.8%) were β+/β+. The percentage of patients with IVS-1-110 genotype was 41.8%, corresponding to 12.0% homozygous and 29.8% heterozygous patients. The mean age of patients was 36.8 (±10.7) years (range, 2.6-74.0), and 52.6% were females. The mean (range) age at diagnosis, initiation of RBC transfusions, and initiation of ICT was 1.1 (±1.2) years (0.08-13), 2.1 (±2.9) (0.08-43), and 5.1 (±5.1) (0.6-65), respectively.
The median (range) transfusion requirement for TDT patients was 175.0 mg/dL/year (100.7-417), the median of the mean hemoglobin (Hb) level was 9.5 g/L (6-20), and the median serum ferritin was 1003 ng/ml (37.6-12484). More patients (31.7%) underwent chelation with desferrioxamine (DFO), whereas deferiprone (DFP) and deferasirox (DFX) were used in 18.5% and 23.1% of patients, respectively. Furthermore, 19.3% of patients underwent sequential or combined DFO-DFP, 0.6% sequential or combined DFO-DFX, and 0.4% sequential or combined DFP-DFX. Chelation data were not available for 164 patients (6.5%).
Median (range) alanine transaminase (ALT) and aspartate transaminase (AST) levels in TDT patients were 29 IU/L (6-381) and 29 IU/L (7-320), respectively. The median (range) of the cardiac ejection fraction, liver T2*, and cardiac T2* was 64% (24-97), 7.5 ms (0.2-49.6), and 38 ms (0-64), respectively.
Eighty-two percent of TDT patients experienced one or more thalassemia-related complication, with 533 (21.1%) experiencing one complication, 486 (19.3%) experiencing two complications, 424 (16.8%) experiencing three complications, and nearly a quarter (625 patients (24.4%)) experiencing four or more complications. Eighteen percent of patients experienced no complications. The most frequently observed complications were liver complications, followed by splenectomy, osteoporosis, hypogonadism, cardiac complications, hypothyroidism, diabetes, hypoparathyroidism, lung complications, infections, and cancer (Table 1).
Conclusion
In this study, more than 80% of TDT patients experienced one or more disease-related complication, with nearly a quarter of patients experiencing four or more complications. This high rate of complications occurred despite well-managed serum transferrin levels in this patient group. This demonstrates that patients with TDT experience a significant burden of disease, even with appropriate iron chelation.
Keyword(s): Thalassemia