By KEVIN GRAHAM
An autopsy finds that he carried two abnormal genes. Linked, they killed him after football practice.
TAMPA - When Bobby Stephens Jr. died after youth football practice, many wondered whether the July heat caused the tragedy.
But a Hillsborough County medical examiner's report said this week that the 12-year-old died from an extremely rare genetic blood disorder that included the presence of sickle cell trait.
The disorder usually has no symptoms, but doctors say strenuous exercise can exacerbate it, causing blood cells to sickle, or clot, and depriving the body of oxygen.
Dr. Leszek Chrostowski, the attending physician who supervised Bobby's autopsy, said the boy carried genes for hemoglobin S, which makes up sickle cell trait, a disorder prevalent in people of African descent, and hemoglobin E, a benign blood trait typically found in Southeast Asians. Before Bobby, there were only 27 documented cases in the world of individuals who died as a result of carrying both abnormal genes, Chrostowski said.
Bobby's mother is from Thailand and his father is African-American, which explained why he carried both genetic traits, doctors said.
"It's one answer, but it's given us a lot more questions," said the boy's father, Bobby Stephens Sr. "Right now, I'm trying to do some research on it since it is so rare."
Carrying the hemoglobin E trait alone is less deadly, Chrostowski said. Individuals with it may have smaller-than-normal red blood cells and experience mild anemia, according to medical research.
But Chrostowski said there are cases of death in people caused by hemoglobin S, part of the genetic makeup of sickle cell trait.
A recent and controversial death initially linked to sickle cell trait was that of Martin Lee Anderson, the 14-year-old who died after being roughed up by guards at a North Florida boot camp. Bay County Medical Examiner Charles F. Siebert Jr. ruled Martin died from internal bleeding caused by sickle cell trait. He had been running laps when he stopped and guards began to beat him.
After a second autopsy in Hillsborough County as part of a state investigation into Martin's death, pathologists concluded that he did not die from sickle cell trait or any other natural causes, but from suffocation after being forced to inhale ammonia fumes. The death investigation by State Attorney Mark Ober is ongoing.
Because of the questions surrounding sickle cell trait and strenuous exercise, members of the National Athletic Trainers' Association are holding a summit in early 2007 to discuss the disease. The death of a Missouri football player last year was attributed to sickle cell trait. Most people who carry the trait experience no symptoms or problems. But someone who has inherited the trait from both parents has sickle cell anemia, a serious disease.
Pinellas-Pasco Medical Examiner Jon Thogmartin said screenings for sickle cell trait may be a good idea, especially for athletes, so they know what to do if they experience problems.
"If you feel faint, pain in your muscles, you may want to stop exercising and for sure, drink, drink, drink," Thogmartin said. "Heat and exercise are bad for anyone with sickle cell trait."
Dr. Jerry Barbosa, medical director of pediatric oncology at All Children's Hospital, said one of the earliest cases of someone dying of complications from having both hemoglobin S and hemoglobin E was an individual in Turkey in 1958.
"This is an extremely, extremely rare combination," Barbosa said. "My guess is if you have a combination of both, that may exacerbate the problem or put you at higher risk."
Bobby's father said the medical examiner's report has caused him to educate his family about the disease and get tested for the sickle cell trait.
"I'm going to get a physical done and see if it's maybe dormant in me," Stephens said. "His mother probably needs to do the same thing, and maybe we can figure out how this all came together."
A member of the Progress Village Panthers varsity team, Bobby complained during the first day of practice July 17 that he was tired and not feeling well. He died on his way to a hospital.
Just days later, 11-year-old Jamell Johnson died while in a hospital, where he had been for nearly a week after collapsing while practicing with the Nuccio Jaguars youth football team. The medical examiner concluded that he died of heatstroke.
Kevin Graham can be reached at (813) 226-3433 or firstname.lastname@example.org.