Estimating the cost of thalassemia care is important for the optimization of care planning, resource allocation and the empowerment of patient advocacy. However, available evidence is heterogeneous, reflecting diverse healthcare systems and cost estimation methods. We sought to build a globally applicable cost model for thalassemia care. We followed a three-step approach, including (i) a targeted literature review to identify previous cost-of-illness studies on thalassemia; (ii) a generic model development based on the main determinants of cost in different countries emerged from a literature review and validated by a team of medical experts; (iii) a piloting of the model using data from two diverse countries. The literature review revealed studies focusing on the total costs of thalassemia care or the cost or cost-effectiveness of specific treatment or prevention modalities in high- and low-prevalence countries across the world. The resulting evidence was used to build a model that calculates total annual therapy cost based on entry of country-level and patient-level data, and data on healthcare modalities, indirect costs and prevention. Testing the model using published data from the UK, Iran, India and Malaysia, revealed an annual cost per patient of £81,796.00 for the UK, Iranian rial (IRR) 13,757.00 for Iran, Indian rupee (INR) 166,750.00 for India and Malyasian ringgit (or dollar) (MYR) 111,372.00 for Malaysia. A globally applicable model that calculates total annual cost of thalassemia care was built based on existing evidence. The model successfully predicted the annual cost of thalassemia care in the UK, Iran, India and Malaysia.
Children with Down syndrome (DS) are at a significantly higher risk of developing acute myeloid leukemia, also termed myeloid leukemia associated with DS (ML-DS). In contrast to the highly favorable prognosis of primary ML-DS, the limited data that are available for children who relapse or who have refractory ML-DS (r/r ML-DS) suggest a dismal prognosis. There are few clinical trials and no standardized treatment approach for this population. We conducted a retrospective analysis of international study groups and pediatric oncology centers and identified 62 patients who received treatment with curative intent for r/r ML-DS between year 2000 to 2021. Median time from diagnosis to relapse was 6.8 (range, 1.1-45.5) months. Three-year event-free survival (EFS) and overall survival (OS) were 20.9 ± 5.3% and 22.1 ± 5.4%, respectively. Survival was associated with receipt of hematopoietic stem cell transplantation (HSCT) (hazard ratio [HR], 0.28), duration of first complete remission (CR1) (HR, 0.31 for > 12 months) and attainment of remission after relapse (HR, 4.03). Patients who achieved complete remission (CR) before HSCT, had an improved OS and EFS of 56.0 ± 11.8% and 50.5 ± 11.9%, respectively compared to those who underwent HSCT without CR (3-year OS and EFS of 10.0 ± 9.5%). Treatment failure after HSCT was predominantly because of disease recurrence (52%) followed by treatment-related mortality (10%). The prognosis of r/r ML-DS remains dismal even in the current treatment period and serve as a reference point for current prognostication and future interventional studies. Clinical trials aimed at improving the survival of patients with r/r ML-DS are needed.