Small change in DNA could make big difference for people with blood disorders

October 26, 2015

Changing just one letter of the DNA of red blood cells holds the promise for a cure to sickle cell anemia and similar blood disorders, Australian researchers have found.

A study at the University of New South Wales shows that a single genetic modification – which essentially switches on a gene that is sleeping in most people after birth – can increase the production of oxygen-carrying hemoglobin.

“An exciting new age of genome editing is beginning, now that single genes within our vast genome can be precisely cut and repaired,” Merlin Crossley, Dean of Science at the university and the lead researcher in the study, said in a university news release.

“Our laboratory study provides a proof of concept that changing just one letter of DNA in a gene could alleviate the symptoms of sickle cell anemia and thalassaemia – inherited diseases in which people have damaged hemoglobin.”

All humans produce two kinds of hemoglobin – fetal and adult. Fetal hemglobin is much more effective at picking up oxygen, but the gene that produces it normally is switched off at birth.

The gene editing technique would turn that gene back on in people with blood disorders, increasing the hemoglobin and the blood’s ability to carry oxygen throughout the body.

The study also is summarized in a video produced by the university,