22 May 2019

A genetic variation could be the reason why some sportspeople with sickle cell trait – the ‘benign’ heterozygous counterpart to sickle cell disease – have an increased risk of collapse during periods of extreme physical exertion, researchers have reported.

A small double-blind study led by researchers at the University of South Florida is the first of its kind to test the theory that genetic markers associated with the production of foetal haemoglobin (HbF) are associated with symptom variation in athletes with sickle cell trait.  

Their findings showed there are significant associations between genetic variations which affect HbF production, and symptomology of sickle cell trait, as well as body mass index and weight.

The study involved 29 US collegiate football players with sickle cell trait, who are heterozygous for the ‘sickle cell gene’, a mutated version of the beta globin gene. They were genotyped for single nucleotide polymorphisms (SNPs) which have previously shown to affect levels of HbF.

The athletes were also asked to complete a survey about any sickle cell disease-like symptoms they have that are associated with exercise-induced collapse.

Dr Lorena Madrigal, from the University of South Florida’s department of anthropology, said: “We know of at least 22 sickle cell trait athletes that have died due to complications associated with their ‘benign’ condition. These individuals were young and in excellent health.

“The results of this study show significant associations between SNPs and symptoms, and between one SNP and greater body weight and body mass index. It is our hope that this information will provide parents, coaching and medical staff a better understanding of the more complex interactions among the sickle cell gene and the modifiers that affect it.”

The researchers, which also included collaborators from Arizona State University, are now planning to undertake further studies on a larger sample of athletes.

Source: Flansburg, C., Balentine, C.M., Grieger, R.W., Lund, J., Ciambella, M., White, D., Coris, E., Gonzalez, E., Stone, A.C., Madrigal, L. (2019) “Fetal Hemoglobin Modulators May Be Associated With Symptomology of Football Players with Sickle Cell Trait”, Southern Medical Journal, available from doi: 10.14423/SMJ.0000000000000976   


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