Evidence-based interventions in hemoglobinopathy care: a multi-center assessment of healthcare systems

Le résumé fourni par la source

Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia, are the most common monogenic disorders and impose a substantial global health burden. Despite advances in personalized and curative therapies, translation of evidence-based interventions (EBIs) into routine care remains limited. A web-based cross-sectional survey was completed by 59 healthcare centers spanning 30 countries. Centers reported patient volumes, staffing, diagnostic and treatment availability, insurance coverage, guideline uptake, and application of the implementation science framework outcomes. Data were collected via REDCap and analyzed descriptively by geographic region and income level. Forty-four centers reported 51,835 patients with SCD and 6,548 with thalassemia. Sub-Saharan Africa (SSA) bore the largest SCD burden, whereas thalassemia predominated in Europe/North America and Northern Africa/Western Asia. SCD was more common in lower-income countries, and adult thalassemia in high-income settings. Healthcare capacity varied, with the highest patient-to-specialist ratios in SSA. Psychosocial and rehabilitative staffing was overall limited. Income-related disparities were observed in access to medications, insurance, diagnostics, and screening, with diagnostic capacity lowest in SSA. Hydroxyurea and transfusion services were widely available, whereas iron chelation and advanced curative therapies were largely confined to high-income countries. Only 19% of centers reported using implementation science frameworks. Geographic and income-related disparities in hemoglobinopathy care persist, reflecting systemic barriers to EBI implementation and the need for coordinated strategies to strengthen health systems and ensure equitable translation of genomic and therapeutic advances into clinical practice.

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