Sickle Cell Trait - Do You Know?

'It means everyone should know their status': exploring lay conceptions of sickle cell trait and sickle cell trait screening among African Americans within middle reproductive age.

"Sickle cell trait is a condition in which a person carries a single copy of the sickle hemoglobin gene inherited from one parent and a normal hemoglobin gene from the other parent." Sickle cell trait is NOT a disease and does NOT mean that the person is sick.

"African Americans are disproportionately affected by this condition, and are referred to as carriers for a genetic blood disorder, sickle cell disease."

"One in 12 African Americans has sickle cell trait."

"While studies demonstrate that there are health complications associated with the presence of sickle cell trait (e.g. increased risk of hematuria [blood in the urine]; sickling [decreased blood flow] under extreme conditions, and an increase in the expression of microvascular diabetic complications), most sickle cell carriers are asymptomatic."

"Currently, since NBS [newborn bloodspot screening] programs are state-based without federal oversight, there are no requirements for state NBS programs to maintain and report data at the national level." Find more data here.

About Red Blood Cells (RBC):

Normal RBC are quite flexible and squeeze through capillaries (small blood vessels) that are narrower than the RBC itself. In a "sickling" episode the RBC becomes more rigid (liked uncooked spaghetti) and ultimately causes an obstruction. New research shows that this deformed and rigid RBC does not get stuck in the small capillaries, it gets lodged in larger blood vessels where previous sickle cells have caused partial obstructions .

Read here to learn more about how sickling cells cause these complications.

In athletes, the issue is called "exertional sickling." The obstruction caused by these deformed and rigid cells decreases blood flow and ultimately can lead to muscle damage called rhabdomyolysis.

Athletes with sickle cell trait are more predisposed to heat illness and altitude illness. It does not mean they cannot compete in sports, it means that all stakeholders (the athlete, parents, coaches, administrators) must know if the athlete has sickle cell trait and modifications to training (more acclimatization time to the heat, more gradual increase in intensity, and more monitoring for symptoms) must be made.

"Athletes with SCT should take the same precautions to prevent exercise-related illnesses as athletes who do not have SCT. To prevent exercise-related illness, all athletes should:

• Obtain a physical examination before beginning an exercise program

• Make a plan with a coach/fitness trainer before they begin an exercise program

• Begin conditioning exercise gradually

• Set their own pace

• Stay hydrated by drinking plenty of water (to learn more visit http://www.acefitness.org/fitfacts/pdfs/ fitfacts/itemid_173.pdf)

• Refrain from consuming high caffeine energy drinks and other stimulants

• Seek care early when they have symptoms

• Be aware of, and adjust gradually to, a change in altitude as this may increase the risk of dehydration

• Limit exercise when they are sick." (Ref)

Do You Know If Your Athlete Has Sickle Cell Trait?

It is only since 2006 that all states have provided newborn screening for sickle cell disease and sickle cell trait. (Ref) (Ref).

Relatively unknown is this: "almost everyone with sickle cell trait is already identified during routine newborn screening for sickle cell disease, but this identification may never reach the parents" (Ref).

In each state there is a Newborn Screening Program. For example, here is the link for California. The birth parent must sign a form typically called Newborn Screening Test Request form. This information should be passed on to the baby's first pediatrician. However, this is not always the case and the process of information exchange differs from state to state.

See this link for an overview of all testing performed during Newborn Baby Screening. Again, it can differ state to state.

NCAA Testing Policy

"In fact, the National Collegiate Athletic Association (NCAA) now requires Division I athletes to undergo testing for sickle cell trait, or sign a waiver that would release institutions from liability. However, this policy is not applied uniformly across other NCAA schools, which have many more athletes than the Division I schools" (Ref).

"Despite implementation of this policy, the NCAA has not adopted a uniform policy regarding genetic counseling and utilization of positive test results" (Ref)

More Information:

CDC Sickle Cell Trait Toolkit

National Newborn Screening and Global Resource Center

Guide to Results of Newborn Screening

http://www.shawnstestimony.com/416181776