Vanquishing Sickle Cell Disease 

The ravages of sickle cell disease (SCD) are relentless. And for about 100,000 people in the US and millions more worldwide, they’re all too real. But UCSF clinicians and researchers are improving diagnostic and treatment options in the present while also exploring ways to eradicate the disease in the future.

A single gene defect causes SCD by producing red blood cells that are sickle-shaped rather than donut-shaped. Affected individuals struggle to produce enough red cells, and the misshapen cells they do produce clump rather than flow, depriving patients’ tissues of oxygen, slowing their growth and development, and causing extreme fatigue and pain.

Children with SCD usually live only until their early to mid-40s because of organ damage and other side effects. But their prospects now are not as dire as they once were.

Early diagnosis and treatment can slow or prevent some of SCD’s complications. The Comprehensive Center for Sickle Cell Disease at UCSF Benioff Children's Hospital Oakland – one of only two federally funded, comprehensive SCD clinics in California – pioneered newborn screening for SCD; such screening is now performed in all 50 states. Parents also can be screened prior to conceiving children and counseled on their options if they carry the sickle-cell gene.

Under the guidance of Elliott Vichinsky, MD, a world-renowned leader in the research and care of hemoglobinopathies, the hospital's pediatric hematologist-oncologists – including Mark Walters, MD (pictured above) – are collaborating with a network of clinicians in 36 countries where SCD is prevalent to improve identification of the frequently misdiagnosed disease and devise new treatments.

UCSF Benioff Children’s Hospital Oakland is also exploring novel ways to improve pain management in children with sickle cell disease, such as the use of ketamine to decrease opioid usage, as well as integrative complementary therapies including virtual reality, transcutaneous electrical nerve stimulation (TENS), and massage.

Walters also is working on stem cell transplants, which have shown promise for correcting the genetic defect that causes SCD. One day, it may even be possible to use gene editing to fix the sickle-cell defect in the womb or shortly after birth, effecting a lasting cure.