Andrea Williams, Executive Director of the Children’s Sickle Cell Foundation sits with her son Jonathan, 9, who has Sickle Cell disease. (AP Photo/John Heller)
LAURAN NEERGAARD, AP Medical Writer
WASHINGTON (AP) — Thousands of families carry the gene that causes sickle cell disease and don’t know it — even though almost every newborn in the U.S. today is tested for what is 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 did not 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.
Sickle cell is most common in black Americans — about 10 percent have the trait — and also in people of Mediterranean, Middle Eastern and Central and South American ancestry. In short, almost anyone can have it.
In late June, the National Collegiate Athletic Association 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.
“There is a lack of awareness all around,” adds Krishnamurti, who spearheaded a separate effort to improve notification of new parents. “It’s really quite a travesty.”
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.
Testing is only half the story, cautions NATA’s Scott Anderson, head athletic trainer at the University of Oklahoma. You can be a star athlete with sickle cell trait, but you and your coaches must be alert to symptoms, like cramps, and get quick treatment.
“If education and precautions don’t follow the information that comes with screening, then the screening has really been done all for nothing,” he says.
On the Net:
Sickle cell info: http://www.sicklecelldisease.net
Athlete info: http://www.nata.org
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