TACKLING SICKLE CELL

In February, a perfectly healthy Bennie Frank Abram III collapsed on the practice field during preseason football training at the University of Mississippi.

The 20-year-old defensive back was rushed to Baptist Memorial Hospital in Oxford, where he was pronounced dead four hours later.

Experts have long known that anyone with two copies of the sickle-cell gene develops the painful blood disorder, which can be fatal.

What wasn't widely recognized until recently is that people, like Abram, with one sickle-cell gene, can be die from the disease while engaging in strenuous physical activity.

Recent casualties among college athletes have forced the reevaluation. Since 2000, 16 NCAA Division I football players have suffered non-traumatic deaths. And nine of those carried the single sickle-cell trait, which contributed to their deaths, according to the National Athletic Trainers Association.

Reflecting the shift, the NCAA last month mandated sickle-cell-trait testing for all entering Division I athletes in the 2010 season so they can be identified and watched carefully during periods of high heat and exertion.

"NCAA did a great job in ruling this, because people were suddenly collapsing and dying," said Eric Laudano, the University of Pennsylvania's head athletic trainer. "We see them when they first collapse and later find out that they have the trait.""Most of these deaths could have been prevented just by knowing if they have the trait."

Those with sickle-cell disease make red blood cells that are normally round but can change to a sickle shape under stress. These cells then deliver less oxygen to the body, break apart, and clog more easily. Patients experience painful "crises" that can involve intense pain and organ failure and lead to long hospital stays.

To get sickle-cell disease, people must get two copies of the gene, one from each parent. If they receive only one copy, they are called carriers.

African Americans are disproportionately afflicted by the disease. One out of 12 African Americans has the trait, but it's not limited to those individuals.

An estimated two million Americans are carriers, according to the Sickle Cell Disease Association of America. This includes 1 of 2,000 Americans of Mediterranean descent (including Italians and Greeks) and 1 of 10,000 Caucasians.

While the single trait was long thought to be benign, complications have been mentioned for years in medical literature.

The first cases linking abnormal gene and physical exertion were identified in the late 1960s. Four black Army recruits died immediately after strenuous exercise during basic training at Fort Bliss, Texas, according to a 1970 report in the New England Journal of Medicine.

Years later, Jefferson Medical College associate professor John Kark led an Army Medical Corps study that examined all deaths among active-duty military personnel from 1977 to 1981.

Kark found that the risk of sudden death in black recruits with the single trait was 37 times higher than risk for black recruits without it, and 40 times higher than for nonblack recruits.

"All of the deaths in sickle-trait carriers were associated with exercise," said Kark.

Pittsburgh Pirates pitcher Dock Ellis, who carried the trait, wrote about his "crises" with sickle cell in his coauthored book, Dock Ellis in the Country of Baseball. During the 1970s, Ellis suffered from joint pain and fatigue in late innings, sometimes followed by dizzy spells and the passing of blood in urine.

An elite pro football player had a more recent scare. Pittsburgh Steelers safety Ryan Clark, another single-trait carrier, nearly lost his life during a 2007 game in mile-high Denver. After feeling short of breath during the game, Clark had to have his gallbladder and spleen removed. He lost 30 pounds and missed the rest of the 2007 season.

Other incidents with the trait and overexertion include the deaths of female basketball player Kourtni Livingston, 14, who collapsed while running sprints in DeSoto, Texas, in 2005, and 19-year-old Donnie Wade II, who died from exertion during fraternity hazing at Prairie View A&M University last fall.

"We [medical professionals] have known for years that the trait is not as benign as we thought," said Roy Gay, a hematologist at the Penn Presbyterian Medical Center in Philadelphia. The physician estimates that 1 to 5 percent of the 40,000 trait carriers in the Philadelphia area experience symptoms, which include blood in urine, extreme joint pain, and bone degeneration.

"Some patients have to undergo hip-replacement surgery," Gay said.

The trait arose more than 2,000 years ago, probably because it protected against malaria, said Drexel University sickle-cell researcher Frank A. Ferrone.

"Trait carriers are resistant to malaria, while people with two copies of the gene have sickle-cell disease, marked by chronic pain because of spontaneous sickling," said Ferrone.

In people with sickle-cell disease, 99 percent of red blood cells are prone to sickling. By contrast, 40 percent of blood cells in trait carriers can sickle in rare moments, usually during parasitic infections and extreme conditions of low oxygen and dehydration.

"During extreme exercise, cells are rapidly losing oxygen and water, which could be an underlying cause of deaths among these athletes," said Ferrone, who noted that there is little research about the trait.

Trainers now are using hydration to protect athletes. Carriers should undergo gradual training, instead of a rapid buildup, since most deaths have occurred during early conditioning. And they should sit out for the day if they experience symptoms, such as lower-extremity cramping.

One problem is self-knowledge. In some of the college football deaths, neither the athletes nor their families knew that they carried the mutation. The NCAA acted after a lawsuit was filed by the parents of football player Dale Lloyd Jr., 19, who died during a 2006 practice at Rice University.

"Most people don't find out that they carry the trait until they have a child with the sickle-cell disease," said Zemoria Brandon, social worker administrator for the sickle-cell association's Philadelphia/Delaware chapter. "Know your status," she stressed.

Since 1995, all U.S. hospitals have been required to test all newborns for the sickle trait.

But Bennie Frank Abram Jr., the father of Bennie III, said that it takes more than knowing your status. Abram, who has a sister with sickle-cell disease, said he knew that his son had the genetic defect.

"I never knew that there was any harm in having the trait. We were only told that if both people [mother and father] have the trait, their children could have sickle-cell disease, and that was it," said the Mississippi native.

Abram supports the new NCAA mandate, but he said that not being warned about what could happen would be defeating the purpose.

Penn's Laudano agrees.

He said that the NCAA has provided educational material to prevent dangerous results from the sickle-cell trait. "We are passing this information on to our students, trainers, and coaches," said Laudano, who oversees nearly 900 athletes.

As for Abram Jr., who lost his son on the first day of team conditioning, he insists that all high school and college athletes should be tested and educated about the sickle-cell trait.

"It can easily be prevented if the athletes know what they are prone for. We don't need 500 deaths to make a point."

Source: Philly.com Health News , By Vabren L. Watts "INQUIRER STAFF WRITER"