A new genetic approach to treating sickle cell disease is showing promising results in mice, report researchers from Children's Hospital Boston. By inactivating a gene they previously discovered to be important in the laboratory, they were able to boost production of a healthy fetal form of hemoglobin in the mice, potentially compensating for the defective adult hemoglobin that causes red blood cells to "sickle" and obstruct blood flow.
The study was presented by first author Jian Xu, PhD, on Sunday, December 6, at the American Society for Hematology meeting in New Orleans, at a 3 p.m. Plenary Scientific Session.
Currently, there are only a limited number of therapies available for patients with sickle cell disease, the most common inherited blood disorder in the U.S., says senior study author Stuart H. Orkin, MD, of Children's Division of Hematology/Oncology, also David G. Nathan Professor of Pediatrics at Harvard Medical School.
Shortly after birth, babies switch from producing the fetal form of hemoglobin, the protein inside red blood cells that carries oxygen, to producing the adult form - the type that is affected in sickle cell disease. It's long been known that people who retain the ability to produce fetal hemoglobin have much milder disease. In previous studies (http://www.childrenshospital.org/newsroom/Site1339/mainpageS1339P1sublevel485.html), the Children's researchers, with collaborators, found that a gene called BCL11A is involved in switching off fetal hemoglobin production in adults. Working with genetically engineered mice, they then explored whether that switch could be turned back on to alleviate the disease.