At present, the only available approach to curing thalassaemia is bone marrow transplantation, following specific requirements that both the donor and patient must fulfil. Gene therapy is being studied as a potential cure for some patients.
Bone Marrow Transplantation
Bone Marrow Transplantation (BMT) or Haematopoietic Stem Cell Transplantation (HSCT) is a medical procedure during which stem cells (a special types of blood cells) are transferred from a healthy individual (the donor) into the blood of an individual with a blood disease such as β-thalassaemia (the recipient).
Stem cells are starter cells produced in the marrow (soft tissue) of some large bones of the body. Stem cells progressively develop into highly specialised cells e.g., Red Blood Cells (RBCs). RBCs, containing Hb, develop from the maturation of stem cells and have the specialised ability to carry oxygen across the body organs and tissues.
Stem cells can be taken from the donor’s bone marrow (bone marrow donation); bloodstream (peripheral donation); or cord blood from a newborn baby (through the umbilical cord). If successful, BMT/HSCT can offer a complete and permanent cure to β-thalassaemia patients, including no need for blood transfusions.
Gene Therapy is a novel therapy that aims at curing thalassaemia by replacing the affected gene that causes the disease with a healthy one in the patient’s DNA.