National Institutes of Health (NIH)-funded scientists have corrected sickle cell disease in adult laboratory mice by activating production of a special blood component normally produced before, but not after, birth.
Sickle cell disease is a recessive genetic disorder caused by a single base mutation in the gene for hemoglobin, beta locus (HBB). Hemoglobin is responsible for transporting oxygen throughout the body. People living with sickle cell disease have two copies of an altered gene that produces sickle hemoglobin instead of normal adult hemoglobin. Sickle hemoglobin changes shape after releasing its oxygen, causing the red blood cell to become stiff, misshapen and sticky, and slowing blood flow to tissues. This process damages organs and causes pain.