1. Iron Chelation Therapy

  • Thalassemia patients, especially those who undergo regular blood transfusions, can accumulate excess iron in the body, which can lead to serious organ damage. Iron chelation therapy helps remove this excess iron.

  • Common Drugs:

    • Deferoxamine (Desferal): An injectable chelating agent.

    • Deferasirox (Exjade, Jadenu): Oral iron chelator.

    • Deferiprone (Ferriprox): Oral iron chelator.

  • Importance in India: Regular blood transfusions are common in India due to the high prevalence of thalassemia, making iron chelation therapy critical in managing the condition. India has a growing availability of these treatments.

  • Resources:

2. Bone Marrow/Stem Cell Transplant (Hematopoietic Stem Cell Transplantation – HSCT)

  • A bone marrow or stem cell transplant involves replacing a patient’s defective marrow with healthy marrow from a matching donor. This procedure is potentially curative, especially when performed early in life.

  • Procedure: The process involves high-dose chemotherapy or radiation followed by the infusion of stem cells (from a matched donor).

  • Challenges in India: Availability of matched donors can be a challenge, though India has numerous stem cell registries. The cost of HSCT is also a barrier for many families.

  • Success Rate: The success rate varies but can be quite high with a matched sibling donor. For unrelated donors, the risks are higher.

  • Resources:

3. Gene Therapy

  • Gene therapy for thalassemia involves correcting the genetic mutation that causes the disease by introducing functional copies of the beta-globin gene into the patient’s cells, typically through stem cell modification.

  • Current Status: Advances in gene therapy have led to clinical trials with promising results, including therapies like LentiGlobin, which has shown efficacy in treating beta-thalassemia by inserting a corrected gene into the patient’s stem cells.

  • Clinical Trials: Several clinical trials for gene therapy are currently underway globally, and India is part of this global effort, with multiple hospitals conducting such trials.

  • Cost and Access in India: While gene therapy offers potential for a cure, its high cost may be a limitation. However, India is seeing an increase in availability for clinical trials and specialized care centers.

  • Resources: