A defective haemoglobin gene has been successfully replaced with a healthy copy.

Gene therapy for a form of β-thalassaemia, a genetic disorder whose sufferers require frequent blood transfusions because they cannot properly produce red blood cells, seems to have been successful in a patient who, three years after treatment, no longer requires transfusions1. Doubts remain, however, over whether a set of lucky circumstances is behind the success.

Patients with β-thalassaemia carry faulty copies of the genes needed to produce the β-globin chain of haemoglobin, sometimes lacking the genes altogether. This leads to a shortage of red blood cells, the body's oxygen carriers.

Sufferers must have regular blood transfusions throughout their lives, an inconvenient and debilitating regime that ultimately shortens life expectancy. The only known cure is stem-cell transplantation, but few patients are able to find a suitable donor.

Because of the gruelling nature of this treatment, the development of gene therapies for β-thalassaemia is seen by many as an exciting prospect. The subject of the latest trial was an 18-year-old man with βE/β0-thalassaemia — in this form of the disease, one copy of the β–globin gene produces unstable β-globin and the other copy is non-functional.

Around half of the patients with this form of β-thalassaemia are dependent on transfusions, and the patient concerned had received blood transfusions since the age of three.

Philippe Leboulch of Harvard Medical School, part of the team that carried out the study, described the treatment as "life-changing". "Before this treatment, the patient had to be transfused every month. Now he has a full-time job as a cook," he says


http://www.nature.com/news/2010/100915/full/news.2010.470.html

While searching the forums, I found some more topics like this one. The question I ask myself each time I read one of them: why are there always studies that find they have "cured" something, but at the same time there is just no more information? Does everyone like to claim things or what is the problem? How does one participate in such studies? It seems like this is the only way to really change something on a deeper level than just taking supplements and changing your life around thalassemia...

The gene therapy trials currently proceeding look to be eventually a real cure for transfusion dependent thalassemia. I doubt this is something that will ever be used for thal minors. As always, minors will have to learn what they can do for themselves with diet. nutrition and exercise.