Hudson Institute researchers have developed a new gene therapy strategy to treat beta thalassaemia, an inherited disorder where the body doesn’t make enough haemoglobin in red blood cells.
Haemoglobin is essential for carrying oxygen around the body.
Researchers led by Dr Jim Vadolas, Research Group Head, Immunohaematology found the lack of haemoglobin is caused by two issues – a mutation in the beta globin gene, and too much alpha globin, which is toxic to red blood cells.
Dr Vadolas’ team used viral gene therapy – a process where therapeutic genes are delivered into blood stem cells by a virus – to both deliver the therapeutic beta globin gene and simultaneously limit the production of excess alpha globin.
The goal of this research to improve the quality of life and save lives by finding new treatments that improve haemoglobin production in beta thalassaemia patients.
This research was conducted in the laboratory. The next step, requiring significant investment, would be to deliver the therapy into patients.
The development is of particular interest to people in Australia’s multicultural communities. Thalassemia is most common in Mediterranean, Middle Eastern, African and Asian populations. Increasing migration from these countries means this disorder is encountered with increasing frequency in Australia.
What did the study show?
In this study, published in Molecular Therapy, Dr Vadolas’ team investigated how to improve haemoglobin production in beta thalassaemia for patients with severe forms of the disease.
“Our approach was guided by the knowledge that reduced production of excess alpha globin can moderate the beta thalassaemia disorder,” said Dr Vadolas.
“Our therapeutic approach has only been possible by firstly understanding the causes of disease and secondly the development and refinement of sophisticated genetic tools able to be used in humans,” said Dr Vadolas.
Why is this study important?
Dr Vadolas’ research group investigates the cause and consequences of severe anaemia in blood disorders, particularly people who have a mutation in the beta globin gene.
These disorders lead to altered production of both haemoglobin and red blood cells, causing serious life-threatening complications soon after birth.
For more than two decades, researchers have been investigating gene therapy strategies to treat inherited red blood cell disorders like beta thalassaemia and sickle cell disease. Recent clinical gene therapy trials have proven reliable for the treatment of milder forms of the disease. However, for patients with severe forms of beta thalassaemia, gene therapy has not been as effective.
About thalassaemia
Thalassaemia is an extremely common genetic disorder which arises due to impaired haemoglobin synthesis. The World Health Organization has conservatively estimated that seven per cent of the world’s population are carriers of various types of genetic conditions affecting haemoglobin, and an estimated 300,000 severely affected patients are born worldwide each year.
Thalassaemia is fatal if left untreated and patients are dependent on regular blood transfusions every three to four weeks for life.
Maintaining the health of more than 500 patients with haemoglobin disorders in Australia is estimated to cost more than $150,000 per patient per year.
Bone marrow or cord blood transplantation is currently the only possibility for a cure. However, the likelihood of complications and scarcity of suitable donors limit this treatment option to a small proportion of patients.
Funders | NHMRC
Collaborators | Monash University, CEA Francois Jacob Biology Institute, Mahidol University and Harvard Medical School.
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