Allogeneic hematopoietic stem cell transplantation has been established for several decades as a gene replacement therapy for patients with thalassemia major and now offers very high rates of cure to those who are able to access this therapy. Outcomes have improved tremendously over the last decade even in high-risk patients. The limited data available suggests that the long-term outcome is also excellent with >90% survival but for best results, hematopoietic stem cell transplantation should be offered early before any end organ damage occurs. However, access to this therapy is limited by lack of suitable donors in more than half the patients. Inadequate hematopoietic stem cell transplantation services and the cost of therapy are other reasons for the same, particularly in those parts of the world which have a high prevalence of this condition. As a result <10% of eligible patients are actuallyable to avail this therapy. Other options for curative therapies are therefore needed. Recently, gene correction in autologous hematopoietic stem cells has been successfully established using lentiviral vectors, and several clinical trials have been initiated. A gene editing approach to correct the β globin mutation or disrupt BCL11A to increase fetal hemoglobin production has also been reported and is expected to be introduced in clinical trials soon. Curative possibilities for the major hemoglobin disorders are expanding. Providing access to these therapies around the world would be the challenge.
- Received March 20, 2016.
- Accepted October 12, 2016.
- Copyright © 2016, Ferrata Storti Foundation