This is the first success of gene therapy in a patient with beta thalassemia
Gene therapy, a treatment as promising as controversial, it has succeeded in a patient with hereditary anemia longer need monthly blood transfusions that had received since childhood. This is the first case in which this type of hereditary anemia, beta thalassemia, managed to overcome thanks to a kind of repairing the patient's own blood with foreign genes for failing to cancel.
Beta thalassemia is a paradoxical disease. Is among the rare illness, affecting less than five people in 10,000, but also one of the most common in diseases that are inherited when both parents bequeath to their children a defective gene, and is especially frequent in Mediterranean populations.
The disease cut the production of hemoglobin, the driver blood that distributes oxygen throughout the body, and makes the patient need a transfusion a month for the rest of his life. This dependence on the blood of others is not always feasible due to lack of suitable donors and causes chronic liver and heart.
As a workaround, Philippe Leboulch's team, working somewhere between hospitals of Harvard University (USA) and the National Institutes of Health in France, has repaired the defective blood of a patient by introducing into it intact copies of the genes that are damaged in people with beta thalassemia. Once inoculated by a disabled virus, the blood re-injected into the patient.
Two years without transfusion
The team tells Nature today that the first blood transfusion was repaired in 2007, when the patient was 18. Since then experienced a gradual improvement to the point of spending almost two years without transfusion.
The results are a temporary triumph for gene therapy in other trials has caused cancer in patients due to the type of virus used to inoculate genes.
"It's a promising, since the use of blood from the patient greatly reduces the risks associated with transplantation," says Mar Mano, which makes diagnosis of thalassemia in the Hospital Clinic of Barcelona. "The results are encouraging," says Paul Lapunzina, an expert in molecular and medical genetics at the Hospital La Paz in Madrid.
Warns that it will be necessary to observe the patient for years to avoid future setbacks like those that have already happened. "You can not know what may happen in the long term," he concludes.