The mystery of sudden deaths of athletes: an explanation

Unfortunately, sudden deaths in the world of sport exist. Olympic athletes and soccer players suddenly die after a session of intense exercise, shocking the whole world. In Spain, for example, there is a regulation that in all soccer fields there must always be a defibrillator for emergency cases.

Doctors and scientists have spent years trying to explain why such tragic cases happen. 'The Atlantic' has echoed the latest research in this regard and has published an article to answer these questions. Thus, they point out that one of the risk factors for sudden athletic death is having a single copy of the abnormal genetic variant of the sickle cell, a pathology called "sickle cell trait" (something like "sickle cell bias"), SCT for its acronym in English).

People with SCT have no symptoms, except in extreme conditions, such as a session of intense exercise or at high altitudes

People with two copies of this abnormal genetic variant have sickle cell anemia, a disease that can turn red blood cells into stiff, sticky cells and sickle shaped that can restrict the amount of oxygen that reaches the body, block blood flow, cause pain and lead to blindness or, ultimately, death.

SCT, however, is generally considered benign. The people who have the SCT they have no symptoms, except in extreme conditions, such as a great height or during a session of intense exercise. In a study published in the 'Journal Sports Medical', the deaths of 13 college football players who suddenly died of the effort were analyzed. Thus, doctors discovered that the risk of death for players with SCT was 37 times greater than for those who did not have this trait.

But it's not that simple, since many athletes with SCT they reach the level of physical demand similar to that of professional soccer players and they do not experience any kind of problems. Others just feel a little pain after doing moderate physical activity. But now, the University of South Florida has launched a new study published in the 'Southern Medical Journal' which shows a small set of genetic variants that control the severity of the effects of SCT. The monotorization and control of these genes, they argue, could reveal who is most at risk and thus get a better understanding of this medical problem that is often overlooked.

It is known that a handful of genes change the medical results for those people with sickle cell anemia, particularly those genes that modify the amount of a protein called "Fetal hemoglobin" in the blood. In this way, the more they have of this protein, the more oxygen there will be in their bodies and the better they will face the anemia caused by the blood disease.

It is very difficult to get participants to do research, since the SCT causes a stigma among the football community

The team, commanded by Lorena Madrigal, followed up 30 soccer players of the United States with SCT. After completing the physical exercise, they were asked if, compared to their teammates who did not have SCT, they experienced extreme thirst, muscle cramps all over the body or pain more frequently and intensely. They also tried seven mutations in each player's genome known to be associated with fetal hemogoblin levels. The results, according to Madrigal, were "dramatic"

Those with less fetal hemogoblin had more symptoms, included a diagnosis of blood disease, while those with genetic dispositions for more fetal hemogoblin had accumulated more muscle mass. Madrigal admits that it is a small study and that the tissue of deceased players should be examined to detect these genetic variants and directly evaluate fetal hemoglobin levels from blood samples. "They are only preliminary data", he acknowledges, in 'The Atlantic'.

"It is very difficult to get participants to conduct research, since the SCT generates a stigma among the football community," says the scientist. "Athletes are reluctant to be treated differently because of their trait ". Something that also corroborates Beverly Francis-Gibson, president of the Sickle Cell Disease Association: "We know there are many athletes who are not allowed to play because they have SCT."

In spite of everything, the SCT should never be treated as a disease, but rather as a risk factor. "People also tend to misunderstand the relationship between condition and ethnicity," criticizes Francis-Gibson. "Unfortunately, is conceived as a bias in racialized people. Yes, it affects African Americans much more proportionally, but we know for a fact that it also affects many more people, including Arabs, Greeks, Italians and Hispanics. "