Stanford study finds having sickle cell trait does not increase risk of death (SF Chron article)


Having a gene that causes sickle cell disease does not increase a person’s risk of death, even from physical exertion, according to a Stanford University study of 48,000 active-duty soldiers released Wednesday. The results may counter widespread concerns that athletes and others with sickle cell trait — meaning they have a gene that causes sickle cell disease, but not the disease itself — are more likely to die from intense training than those without the gene. Those concerns largely have been based on sudden deaths such as that of Cal football player Ted Agu in February 2014. The Stanford paper, published in the New England Journal of Medicine, did find that soldiers with sickle cell trait had an increased risk of suffering injury from overexertion. But their risk of dying, for any reason, was the same as that of their peers with no sickle cell trait, the Stanford researchers found. "I find these results incredibly reassuring," said Lianne Kurina, an associate professor of medicine at Stanford who was an author of the study. "I think people will be surprised. But we can be really confident about these results." The study is the largest yet to look at the correlation between sickle cell trait and death and overexertion injury. How to address sickle cell trait in athletes, especially at the college level, has become a heated conversation among coaches, trainers, doctors and athletes themselves. Sickle cell disease is a blood disorder that can cause extreme pain, stroke and death, and must be managed carefully over a person’s lifetime. It occurs when a person has two copies of the gene that causes blood cells to take on a distinctive sickle shape, interfering with blood flow. Sickle cell largely affects black people. Nearly 8 percent of the black population carries a copy of the gene, compared with 1 percent of Latinos. Only about 1 in 10,000 white people has a sickle cell gene. People with only one copy of the gene are considered healthy. The healthy gene dominates, and most of their blood cells are the normal doughnut shape. The main concern of these people is usually avoiding passing two copies of the gene to their offspring. But reports of deaths among sickle cell carriers under extreme physical stress raised concerns that just having one copy of the gene may put people at risk. In response to several high-profile deaths involving athletes with sickle cell trait, some of which resulted in lawsuits, the NCAA began requiring six years ago that all college athletes be tested for the gene. The Agu case, which occurred four years after the NCAA regulations were put in place, also led to a lawsuit. The 21-year-old defensive lineman for Cal died after taking part in a conditioning drill in which players holding a rope together had to sprint repeatedly up and down a hill. His parents sued the university, saying their son should have never been placed in such a strenuous workout because he carried sickle cell trait. UC settled the lawsuit in April for $4.75 million. The NCAA’s testing requirement for all athletes was controversial, because many doctors said it was implemented without scientific evidence demonstrating that sickle cell trait causes sudden death or that screening for the trait can save lives. Medical ethicists worried that athletes with the sickle cell gene — almost all of whom are black — would be prevented from training to their full potential or even be pushed off teams. "Based on your genetic makeup, we put a stamp on your forehead and say, ‘You have to be treated differently,’" said Frans Kuypers, a sickle cell expert at UCSF Benioff Children’s Hospital in Oakland. "And not really because of any risk factors. This whole (screening) thing was driven by anecdotal data and litigation." Kuypers and other experts in blood-related diseases said the Stanford study should help put to rest some fears that sickle cell trait can cause sudden death, although they also pointed out that anecdotal reports still carry a lot of weight. "I don’t think any parent who sends their child off to school imagines that some recreational activity can result in something so tragic," said Dr. Alexis Thompson, a pediatric hematologist at Children’s Hospital of Chicago and vice president of the American Society of Hematology. "But it’s equally tragic to attribute risk inaccurately, because it doesn’t allow you to get to the real answer." Thompson added that the Stanford research still doesn’t answer why some people with sickle cell trait are at greater risk of injury from strenuous exertion. "Sickle cell trait is a very common genetic characteristic. It is probably not sufficient to explain a very rare event," she said. In the study, 391 of the 48,000 soldiers suffered exertional rhabdomyolysis, a condition marked by severe muscle breakdown that can lead to organ failure and death. The soldiers with sickle cell trait were 54 percent more likely to develop the condition than those without the trait. But the risk was small for both groups — 1.2 percent for those with the trait, and 0.8 percent for those without it. And other characteristics, including whether a person smoked, was overweight or had recently taken certain medications, put soldiers at the same or higher risk for exertional rhabdomyolsis. One immediate takeaway from the study is that everyone who does very strenuous training should take certain precautions, including resting as needed and drinking enough water, said Thompson. "It speaks to the benefit of universal precautions," she said, "and those benefit everybody."

WNBA Bears in action!


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Cal has an incredible tradition that at this point is not worth messing with. We'd like to do the Joe Roth throwback jerseys in 2016. -SD

Facebook chat

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Ivan Rabb

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Ivan Rabb

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MaxPreps (HT Cal RIvals)

CAL > Stanford


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