Scientists Discover New Way to Treat Sickle Cell Disease

Scientists just opened a promising new door for millions living with sickle cell disease and beta thalassemia.

Researchers at Dana-Farber Cancer Institute discovered an entirely new biological pathway that could treat these painful blood disorders. The finding comes nearly two decades after the same team identified the mechanism behind today's cutting-edge gene therapies.

The new pathway involves two proteins called BACH2 and NRF2. Think of BACH2 as a brake pedal that stops the body from producing fetal hemoglobin, the healthy type of blood protein that babies make before birth. When scientists reduced BACH2 in laboratory tests, NRF2 stepped on the gas and turned fetal hemoglobin production back on.

Dr. Vijay Sankaran, who led both the original discovery and this new research, explained what makes this exciting. "Nearly 20 years ago, human genetics pointed us to BCL11A and ultimately helped open a path to gene therapies," he said. "What is exciting about this study is that the same approach is still revealing entirely new ways to turn fetal hemoglobin back on."

The discovery came from analyzing genetic data from people of European, African, and Asian ancestries. This international collaboration included researchers from Tanzania, Thailand, Sweden, the United Kingdom, the Netherlands, Brazil, and Italy.

Current gene therapies like Casgevy work by targeting BCL11A, but they require complex procedures that aren't accessible to everyone who needs them. This new pathway operates independently, opening possibilities for drug-based treatments that could be easier to deliver. Early tests show that blocking BACH2 with medications successfully increases fetal hemoglobin in human blood cell precursors.

The Ripple Effect

Because these two pathways work independently, scientists are now exploring whether targeting both BCL11A and BACH2 simultaneously could provide even stronger benefits for patients. That could mean better outcomes for the millions of people worldwide living with these inherited blood disorders.

The team's next steps focus on determining whether this pathway can be targeted safely and effectively in actual patients. Multiple foundations are supporting this work, including the Gates Foundation, National Institutes of Health, and Howard Hughes Medical Institute.

One discovery is lighting the way toward multiple treatment options for conditions that cause lifelong pain and complications.