CHANGING OUTLOOK FOR SICKLE CELL

Sickle cell disease riddles lives with near-daily episodes of pain, sometimes as searing as that of a heart attack. "From age 6 months, aches and pains are part of the life of someone with sickle cell. When the pain becomes profound, it generally signals what we call a crisis," says Pedro Gascon, MD, professor of hematology at UMDNJ-New Jersey Medical School and a sickle cell expert.

A lack of blood supply to a particular organ or part of the body, or to multiple areas, produces a crisis. Sickled cells - which change shape and get stiff - stick together, get jammed into capillaries and cannot travel through. When tissue is deprived of the oxygen carried by these red cells for too long, it gets damaged and can die, explains Gascon. Repeated crises over a period of 20 years can cause bone death, arthritis, and sometimes multiple organ failure.

But the outlook has improved for those with sickle cell disease, which affects 1 in 500 African-Americans and more rarely those of Mediterranean, Indian and Middle Eastern descent. Because the disease and its complications are better understood, life expectancy has risen in the last two decades from early adulthood to age 50 and older. Unfortunately, many still die in their 20s and 30s.

"Our number one advance is the quick recognition and treatment of infections," says Michael Jaker, MD, medical director of the emergency room at UMDNJ-University Hospital, who frequently treats patients in crisis. "Individuals with sickle cell are ticking time bombs. By the time they've reached adulthood, their spleens have been destroyed, and they are prone to many serious infections."

There are also several new therapies. Hydroxyurea, a chemotherapeutic agent originally developed for the treatment of leukemia, increases fetal hemoglobin, thereby reducing crises by an average 50 percent in those with severe disease. "This is a revolutionary drug, the first to turn on fetal hemoglobin," Gascon explains. "Because it cuts sickling in half, it prevents the constant injury to tissue." The medical school was one of 21 sites nationwide to conduct clinical trials of the drug, which was approved by the FDA for adults with serious disease in 1998.

Newer still is a drug called flocor, which is currently in clinical trials and only available for those in acute crisis who come in to the emergency room. The experimental polymer coats sickled cells and "acts like a lubricant - almost like pouring oil into the blood - stopping them from aggregating," he explains. University Hospital is among 27 sites in the country testing the therapy.

Gascon says that the ability to manipulate the blood to stop sickling is a revolutionary step in medicine. His fervent hope is that more effective and less toxic agents will follow in the near future, particularly for children, who are seriously damaged by this painful and crippling disease in every area of their lives.