Best Practices for Thalassaemia Management: Recommendations by Indian Society of Haematology and Blood Transfusion

Thalassemia comprises a heterogeneous group of most common monogenetic disorder and inherited autosomal recessive hemoglobin disorders characterized by defective globin chain synthesis, resulting in hemolysis, ineffective erythropoiesis, chronic anemia, and multisystem complications. India bears a substantial thalassemia burden, with millions of carriers and over 12,000 affected births annually, necessitating standardized, context-appropriate management strategies. These recommendations by the Indian Society of Haematology and Blood Transfusion (ISHBT) provide comprehensive, evidence-informed guidance for the diagnosis, treatment, monitoring, and prevention of thalassemia across diverse healthcare settings in India. The recommendation developed through a structured, multidisciplinary consensus process and expert review, these guidelines aim to harmonize best practices nationwide while allowing flexibility for regional adaptation. Their implementation is expected to improve survival, quality of life, and long-term outcomes for individuals living with thalassemia in India. The guidelines address the clinical spectrum, including transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT), emphasizing early diagnosis through hematological indices, hemoglobin fraction analysis, and molecular testing when indicated. Clear recommendations are provided for rational blood transfusion practices, iron overload monitoring, and timely initiation of iron chelation therapy to prevent cardiac, hepatic, endocrine, and skeletal complications. Disease-specific management of iron-related organ damage, infections, endocrine dysfunction, fertility issues, pregnancy, and emergency scenarios is outlined. Curative and disease-modifying options including hematopoietic stem cell transplantation, gene therapy, and newer agents such as luspatercept, hydroxyurea, and thalidomide are outlined. Preventive strategies, highlighting carrier screening, antenatal and prenatal diagnosis, genetic counseling, and public awareness initiatives.