In this Aug. 1, 2009 photo, Andrea Williams, Executive Director of the Children's Sickle Cell Foundation sits with her son Jonathan, 9, who has Sickle Cell disease, as he holds a piece of red candy Williams uses to represent a child with sickle cell disease in a game she developed called the candy-gene game in Pittsburgh. (AP Photo/John Heller)
WASHINGTON - Thousands of families carry the gene that causes sickle cell disease and don't know it - even though almost every newborn today is tested for what's called "sickle cell trait," and starting this summer more college athletes are getting tested, too.
Spurred in part by rare but tragic collapses of athletes from overexertion, work is beginning to find families missed by newborn screening or who didn't understand that sickle cell trait has ramifications: Aside from sports safety, if both parents carry the gene they could have a baby with full-fledged sickle cell disease, a devastating blood disorder.
In late June, the NCAA recommended that colleges and universities test student-athletes, many of whom were born before widespread newborn screening. The move helped settle a lawsuit from the family of a 19-year-old freshman football player at Rice University, Dale Lloyd II, who died from sickle cell trait complications during a conditioning workout in September 2006.
"Athletes should be tested but so should everybody else," says Dr. Lakshmanan Krishnamurti of the Children's Hospital of Pittsburgh, whose sickle cell program, prompted by the NCAA recommendation, is preparing to offer testing for anyone in that city's schools, both high school and college.
Don't misunderstand: Sickle cell disease demands immediate treatment for babies, and state testing programs make tracking down those families a priority. About 80,000 Americans have sickle cell disease, in which oxygen-carrying hemoglobin clumps inside red blood cells, turning them into a sickle shape that can't squeeze through tiny blood vessels. That causes pain, infections and eventually life-threatening organ damage.
Sickle cell trait is different. More than 2.5 million Americans have it, meaning they carry one copy of the abnormal hemoglobin gene, not the two needed to cause full disease. Trait carriers only occasionally experience health problems, like blood in the urine, some blood clumping at high altitudes and the athletes' risk - in which intense exercise can cause blood cells to sickle enough to block blood flow to muscles, which rapidly break down. The National Athletic Trainers Association, which also recommends athlete testing, has counted a dozen sports-related deaths since 2000 from that "exertional sickling," most of them college football players during training but also two 12-year-olds.
"We were caught off guard," says Andrea Williams of Pittsburgh, whose fourth child, Jonathan, was born with sickle cell disease in 2000. Because her mother-in-law insisted her husband wasn't affected, "I told the nurse that was not genetically possible."
But more testing confirmed it: Both Williams and her husband silently carried the sickle gene, and their two oldest daughters do, too. Although Pennsylvania was screening newborns before her second daughter's birth, no one contacted the family then so they could learn they were at risk.
Krishnamurti's program has since improved newborn notification so that most affected families in western Pennsylvania get telephone genetic counseling, and 20 percent seek testing of family members, up from 2 percent in 2002. And Williams started the Children's Sickle Cell Foundation to, among other things, educate teenagers about sickle trait and get them tested before they start having children.