Mutation to cure blood disorders

Hyderabad: A team of scientists from the University of New South Wales in Syndey have used a gene editing technique to introduce a natural mutation into blood cells. This technique, which allows for the activation of foetal haemoglobin production in adults, may be used as a potential cure for sickle cell anaemia and other blood-related disorders. The results of the study were published in the journal Blood.

People who suffer from diseases such as thalassaemia or sickle cell anaemia have damaged adult haemoglobin in their blood cells. Haemoglobin is a vital molecule which picks up oxygen from the lungs and transports it to all the parts of the body. Patients who suffer from disorders that affect haemoglobin generally require treatment and blood transfusions throughout their lives.

Now, scientists have found a natural mutation called British 198, the carriers of which have reduced symptoms of blood-related disorders. This mutation turns on the foetal haemoglobin gene which is normally turned off after birth. The foetal haemoglobin that is produced by this gene has a very strong affinity for oxygen and is thus able to compensate for the defective adult haemoglobin gene. Trials have indicated that the introduction of this mutation is a safe and effective way to treat serious blood disorders. Before it can be used in gene therapy, further research must be conducted, and testing must be carried out with a larger sample size.