Genetic malignant fibrous histiocytoma histology factors may help explain athletic sudden death development channel

One of the risk factors for athletic sudden death is malignant fibrous histiocytoma histology having a single copy of the abnormal gene variant for malignant fibrous histiocytoma histology sickle cell, a condition called “sickle cell trait” (SCT). People with two copies of this abnormal gene variant have malignant fibrous histiocytoma histology sickle cell anemia, a disease that can turn red blood cells into rigid, sticky, sickle-shaped cells that can restrict how much oxygen gets to malignant fibrous histiocytoma histology the body, block blood flow, cause pain, and lead to blindness or death.

SCT, meanwhile, is generally considered benign most of the time. The conventional wisdom is that people with SCT do not malignant fibrous histiocytoma histology normally have symptoms—except under extreme conditions, like at high altitude, or during intense exercise. In one study that included 13 U.S. College football players who died suddenly of exertion, the risk of death for SCT players was 37 times malignant fibrous histiocytoma histology higher than for players without the trait.

But the reality is a little more complicated, says lorena madrigal, a biological anthropologist at the university of south florida. Some SCT athletes rise to the level of professional football malignant fibrous histiocytoma histology players and experience no problems. Other SCT individuals report having pain after moderate activity. “there’s such tremendous diversity,” says madrigal.

Now madrigal and colleagues propose one possible reason for this malignant fibrous histiocytoma histology variation. In the may issue of the southern medical journal, madrigal and a team of biological anthropologists, a geneticist, and medical doctors show that a small set of gene malignant fibrous histiocytoma histology variants might control the severity of SCT’s effects. Monitoring for those genes, they argue, could reveal who is at highest risk and promote understanding malignant fibrous histiocytoma histology of this often overlooked medical problem.

There are a handful of genes known to change the malignant fibrous histiocytoma histology medical outcomes for people with sickle cell anemia, in particular those genes that modify the amount of a malignant fibrous histiocytoma histology protein called fetal hemoglobin in the blood. The more fetal hemoglobin patients have (as opposed to adult hemoglobin), the more oxygen their bodies have access to and the malignant fibrous histiocytoma histology better they do in the face of anemia caused by malignant fibrous histiocytoma histology blood sickling. “we have known that for decades,” says madrigal. Perhaps these same genes, she thought, might also impact outcomes for people with SCT.

Madrigal’s team worked with about 30 U.S. Football players with SCT. The researchers asked them whether, in comparison with their non-SCT teammates, they experienced extreme thirst, full-body muscle cramps, or pain more often or more intensely. They also took cheek swabs and tested for seven mutations malignant fibrous histiocytoma histology in each player’s genome that are known to be associated with fetal malignant fibrous histiocytoma histology hemoglobin levels. The results, says madrigal, were “dramatic.” those participants with genetic dispositions for less fetal hemoglobin had malignant fibrous histiocytoma histology more symptoms, including a diagnosis of blood sickling, whereas those with genetic dispositions for more fetal hemoglobin had malignant fibrous histiocytoma histology built up more muscle mass.

It was “very, very difficult” to get participants, madrigal adds, as SCT is stigmatized in the football community. Athletes are reluctant to be seen or treated differently because malignant fibrous histiocytoma histology of their trait, madrigal says. “we know there are a lot of athletes that are malignant fibrous histiocytoma histology getting sidelined or not allowed to play because they have malignant fibrous histiocytoma histology SCT,” says beverley francis-gibson, president of the sickle cell disease association of america in malignant fibrous histiocytoma histology baltimore.

“I think it is believable and worthy of further study,” says james taylor of the new results; taylor is the director of the center for sickle cell malignant fibrous histiocytoma histology disease at howard university hospital in washington, D.C. The proposed mechanism is plausible, he notes. “fetal hemoglobin might provide an extra buffer.” but further work is needed to prove the connection: “for population genetics, this [sample size] is ridiculously small,” he says.

In the united states, 8 percent of african americans have SCT, but the trait also affects people of arab, greek, italian, and hispanic descent, among others. And one parent with SCT can pass that trait along malignant fibrous histiocytoma histology to their child, no matter the child’s other heritage. Madrigal says she has heard many stories from distressed mothers malignant fibrous histiocytoma histology about their SCT children being dismissed by doctors because, with their blue eyes or red hair, they were “too white” to have SCT—a judgment made even when, for example, a child was taken to the emergency room for extreme malignant fibrous histiocytoma histology pain after soccer practice.

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