Diagnosis and Management of Transfusion-Dependent Thalassemia: Evidence-Based Guidelines From the Pediatric Hematology Oncology Chapter of the Indian Academy of Pediatrics.

JUSTIFICATION: India bears a high burden of thalassemia, underscoring the need for enhanced awareness, systematic screening, and standardized, high-quality care. In the absence of indigenous guidelines, gaps remain in knowledge and care delivery. To address this, the Pediatric Hematology Oncology Chapter of the Indian Academy of Pediatrics (IAP-PHO) is issuing evidence-based regional guidelines tailored to the Indian context.

OBJECTIVE: The primary objective of these guidelines is to establish nationally accepted standards for the diagnosis, comprehensive management, and prevention of thalassemia syndromes, incorporating the latest and locally relevant evidence.

PROCESS: These evidence-based guidelines were developed through structured deliberations by 67 national experts under the IAP-PHO, incorporating iterative literature review, expert consensus, and context-specific considerations for India. The evidence quality (levels A-D, X) and strength of recommendation (strong, moderate, weak) are graded using the updated American Academy of Pediatrics framework.

SCOPE: These guidelines provide a comprehensive, evidence-based framework for thalassemia care in India, encompassing prevention, diagnosis, transfusion and chelation, complication management, curative therapies and systems-based care, including day-care services and transition to adult care.

RECOMMENDATIONS: Regular transfusion therapy with leukodepleted packed red cells to maintain pre-transfusion hemoglobin of 9.5-10.5 g/dL is the cornerstone of management in transfusion-dependent thalassemia (TDT), with individualized adjustment in special situations such as cardiac dysfunction. Iron chelation therapy should be initiated after 10-20 transfusions or when serum ferritin (SF) exceeds 1000 ng/mL; oral deferasirox is the preferred first-line agent. Combination therapy using deferasirox, and/or deferiprone and/or desferrioxamine is recommended when monotherapy with either deferasirox or deferiprone fails to reduce SF to < 2500 ng/mL or in the case of poor tolerance to one agent or when there is evidence of significant organ iron overload on T2*MRI (magnetic resonance imaging); de-escalation of chelation is recommended when SF approaches < 500 ng/mL. Comprehensive multidisciplinary care, incorporating systematic screening and timely interventions for cardiac, hepatic, endocrine, and skeletal complications, is strongly recommended. Early counseling for hematopoietic stem cell transplantation (HSCT) should be offered at diagnosis, with transplantation preferably performed at a younger age. Universal antenatal screening, cascade screening, and access to prenatal diagnosis, are critical to reducing disease burden. Emerging disease-modifying therapies may be considered in selected patients, with evolving pediatric data. Delivery of care through dedicated thalassemia day-care centers and structured transition to adult services is recommended to ensure continuity of care and best quality of life.