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Calls to test athletes for sickle cell gene

10 August 2009
Appeared in BioNews 520

The deaths of student-athletes due to complications of sickle-cell trait has led the US's National Collegiate Athletic Association to recommend that all student-athletes should be tested for the condition. Dale Lloyd II died in 2006 after suffering 'exertional sickling' caused by overexertion during an early morning practice and, more recently, Ja'Quayvin Smalls died on 8 July 2009 of the same rare complication during a sprint workout in Western Carolina University. The exertional sickling complication of sickle-cell trait is known to have caused at least seven fatalities since 2000.

Sickle-cell disease is a condition caused when a person inherits two abnormal heamoglobin genes. The disease causes haemoglobin inside the red blood cells to clot, which in turn causes the cells to change into a sickle shape and prevents the cells flowing into blood vessels. This causes cramps and infections and can lead to fatal organ failure. However, sickle-cell trait occurs where a person is merely a carrier having inherited only one abnormal gene. Occasionally it may cause blood clumping at high altitudes and blood in the urine.

Whilst sickle-cell disease is most common in those of African descent, it affects many others and so screening was introduced in 1998 which became widespread for all newborns by 2006. Although sickle-cell trait is picked up by the screen, some parents may not have been informed about this, whilst others may have forgotten as their child grew older as the condition is largely benign. As a result, the risks are unknown and the warning signs may go unnoticed as exemplified by the student-athlete fatalities.

Another concern is whether parents relay the information to those who need to know for fear of placing their child at a disadvantage. Cheryl Jones, Ohio state's sickle-cell program coordinator states: 'We don't want this to be a restrictive atmosphere where [schools] start looking at students with the trait as a liability.'

Furthermore, specialists are asserting that tests should be made available to everyone, especially those who are planning to have children. If both parents are carriers there is a one in four chance of their children suffering from sickle cell disease. Dr Lakshmanan Krishnamurti of the Children's Hospital of Pittsburgh, who launched a sickle-cell program after the recommendations were made, says that 'there is a lack of awareness all around,' and adds: 'It's really quite a travesty.'

NCAA asks schools to test athletes for sickle-cell trait
The Columbus Dispatch |  3 August 2009
Rare athlete deaths spur sickle cell trait testing
Press Association |  4 August 2009
WCU now testing for sickle cell disease |  4 August 2009
17 October 2011 - by Mehmet Fidanboylu 
The blood condition sickle cell disease may be reversed by turning off a single gene, according to scientists in the USA. By inactivating a single gene in red blood cells the researchers were able to alleviate symptoms of the disease in mice, offering the hope of a potential new treatment for humans...
27 September 2010 - by Seil Collins 
The US National Collegiate Athletic Association (NCAA) has introduced new legislation requiring all incoming students at the highest level of intercollegiate athletics to be tested for sickle cell trait. The testing, which will affect approximately 170,000 incoming student-athletes, is being watched closely as a case study of modern large-scale genetic screening...
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