SICKLE CELL DISEASE AND TRAIT

  • “Sickle Cell Trait continues to be the leading cause of death in young African Americans in civilian organized sports and military basic training.
  • “Sudden death due to periods of extreme physical exertion continues to occur in individuals with sickle cell trait.
  • “Sickle syndromes include several distinct diseases that cause red blood cells to sickle:
  • sickle cell anemia, sickle cell trait, hemoglobin sickle cell disease, and sickle cell-β-thalassemia.
  • “Sickle cell trait is the heterozygous condition (HgbAS) and has a prevalence rate of 6 to 9% in African Americans and 0.01 to 0.05% of the remaining population primarily those with East Indian, Hispanic, Arab, and Mediterranean lineage [].
  • “The syndrome has the highest prevalence among individuals of African descent but is also exhibited in those of Caribbean, Arab, East Indian, and Mediterranean lineage
  • “All individuals participating in high-intensity organized sports should know their HgbS status.
  • “Individual and environmental factors that play a role in exertional collapse associated with sickle cell trait:
  • “Sustained intense exercise, dehydration, elevated ambient temperatures, high altitude, fatigue, poor physical conditioning, and concurrent febrile illness.
  • “These factors lead to hyperviscosity which raises the intracellular concentration of HgbS and promotes intravascular sickling, occlusion of the microvasculature, and rhabdomyolysis.
  • “Need to focus on child (<18) and youth (18-24) Athletes.
  • “Sickle cell screening of all newborn children is mandated in all 50 states
  • “But information about HgbAS status may be poorly communicated, children not born in USA, who are not tested at birth and have no recollection of their sickle cell status enlist to participate in team school sports. [Sickle Cell Trait and Sudden Death, Mitchell BL, Sports Medicine – Open. 2018;4:19.]

During intense exertion and exhaustion, while participating in Sports, Recreation and Exercise (SRE),  Athletes with known Sickle Cell Trait or Sickle Cell Disease. should not attempt to play through pain and other symptoms.

Athletes, who are symptomatic, with pain,  abnormal fatigue, weakness, difficulty standing,, muscle swelling, dyspnea, difficulty breathing, leg or lower back pain, cramping, especially in the legs or lower back, muscle weakness and difficulty holding head up, during intense exertion and exhaustion, while participating in Sports, Recreation and Exercise (SRE), should have screening for Sickle Cell Trait and Disease, no matter their ‘presumed negative status’, especially if ‘presumed screening’ was not recent.

‘Boot camps’ often reveal symptomatic Athletes, who will test positive when screened, and who during season, following ‘camps’ immediately before or during season, will have continued symptoms, hampering their performance for days to weeks.

“Sickle cell trait (SCT) is both common and associated with a risk of sudden exertional death, (the exact pathophysiological cause remains a mystery). All high-level US intercollegiate athletes now face mandatory screening. [Sudden exertional death in sickle cell trait, Loosemore M, Walsh SB, Morris E, et al, Br J Sports Med 2012;46:312-314]

“Sickle cell trait (SCT) has been associated with exertional collapse (ECAST) and exercise-related sudden death in athletes and military warfighters. The mechanisms underlying ECAST remain controversial in the sports medicine community.

“Multiple case presentations and anecdotal reports postulate the role of extraordinary exercise intensity. Other risk factors including dehydration, heat, previous exertional rhabdomyolysis, genetic cofactors, and dietary supplements have been cited as potential contributors.

“Others have hypothesized some of the aforementioned factors combining in a “perfect storm” to trigger ECAST with a resultant potentially fatal “metabolic crisis.” This case report provides a brief review of SCT as it pertains to exercise in warfighters and athletes, identifies known and postulated risk factors associated with ECAST, and introduces the potential mechanistic role of the “double hit” as a contributor to ECAST. [Exercise Collapse Associated with Sickle Cell Trait (ECAST): Case Report and Literature Review by Quattrone, Richard D. DO, MPH1; Eichner, E. Randy MD, FACSM2; Beutler, Anthony MD3; Adams, W. Bruce MD4; O’Connor, Francis G. MD, MPH, FACSM5, Current Sports Medicine Reports: March/April 2015 – Volume 14 – Issue 2 – p 110–116]

“Sickle cell disease is inherited and can occur only when both parents carry the sickle cell trait. While children of any race can be born with the condition, in the United States it is most prevalent among African-Americans and second-most common among people of Hispanic origin. Worldwide, sickle cell disease occurs most frequently in people whose ancestry originated in regions that include:

• Sub-Saharan Africa. (In some parts of Africa, as many as 2 percent of babies are born with SCD, and up to 25 percent of the people are believed to carry the sickle cell trait.)
• Spanish-speaking regions of Central America, South America, and parts of the Caribbean
• Saudi Arabia
• India
• Sri Lanka
• Mediterranean countries such as Turkey, Greece, and Italy

“Scientists theorize that the defective gene that causes SCD evolved in places where the rates of fatal malaria epidemics were high. People with sickle cell trait (explained below), who had some abnormal hemoglobin in their red blood cells, were protected against malaria, because the unusual shape prevented the malaria organism from penetrating. So more of those people survived and reproduced, and they passed the sickle cell trait on to their children.

Sports Participation in Adolescents with SS Disease

• SSD is more dangerous in Sports Participation
• Adolescents should be encouraged to participate in moderate, supervised exercise
• SS Anemia occurs in SS Disease, not the SA trait
• Exercise tolerance greatly depends on the severity of the SS Anemia
• Individuals with SS will transition to anaerobic metabolism more quickly that results in lactic acidosis and muscle cramping, heat exhaustion or heat stroke
• High risk of volume of oxygen consumed (VOC) pain crises
• Exercising too hard on the hips – Avascular necrosis (AVN)
• If the patient has a large spleen – contact sports would carry a risk of splenic rupture
• Individuals with SSD should avoid extreme endurance sports such as long distance competitive racing, football, etc which push the body to exhaustion/dehydration
• Avoid sports that involve cold temp or low oxygen concentration that will trigger VOC pain
• Avoid repetitive jumping
[The Student Athlete with Sickle Cell Disease / Trait by Cynthia Gauger, MD Nemours Children’s Clinic]

Sickle Cell Trait: “Those who inherit a hemoglobin A gene from one parent and a hemoglobin S gene (‘the sickle cell gene’) from the other parent have what is known as sickle cell trait (AS), a condition in which red blood cells contain both hemoglobin A and hemoglobin S. The red blood cells of people with sickle cell trait usually contain slightly more hemoglobin A than S. [Duke Medicine in Corroboration with USNews Health]

Sickle Cell Trait is found in all races. “The sickle-cell trait, present in 8% of the black population and also found in people of Mediterranean descent, can pre-dispose an athlete to a sickle-cell crisis during times of heat-related stress. A high index of suspicion is necessary when such participants demonstrate any sign or symptom of illness, such as muscle cramps or abdominal pain. Treatment with immediate intravenous hydration and supplemental oxygen may be life-saving and may prevent damage to vital organs.” [41,42]

[41. Gallais Daniel Le, Bile Alphonse, Mercier Jacques, Paschel Marc, Tonellot Jean Louis, Dauverchain Jean. Exercise-induced death in sickle cell trait: role of aging, training, and deconditioning. Medicine and Science in Sports and Exercise. 28(5): 541-544, May 1996.
42. Kark J A, Posey D M, Schumacher H R, Ruehle C J. Sickle-cell trait as a risk factor for sudden death in physical training. New England Journal of Medicine. (317): 781-787, September 1987.]

“Understanding who gets sickle cell disease and trait calls for a brief genetics lesson.

“Children typically inherit one copy of the normal hemoglobin beta chain gene (hemoglobin A) from each parent. But some children instead inherit one or two mutated hemoglobin genes—usually genes known as hemoglobin S, C, D, E, or O.

“Those who inherit a hemoglobin A gene from one parent and a hemoglobin S gene (“the sickle cell gene”) from the other parent have what is known as sickle cell trait (AS), a condition in which red blood cells contain both hemoglobin A and hemoglobin S. The red blood cells of people with sickle cell trait usually contain slightly more hemoglobin A than S. [USNews Health in Corroboration with Duke Medicine]

“A study, which is currently under peer review, examined 2,387 deaths in the 30-year U.S. National Registry of Sudden Death in Athletes and found 22 athletes had sickle cell trait. It was considered the primary cause of death in 15 cases.

“The Army first noticed sickling in basic training recruits in 1968 and studied it extensively in the 1970s and 1980s. A review by Army physicians found those with sickle cell trait 30 to 40 times more likely to die during basic training.

[Danger zone: College football culture, sickle cell trait are lethal combination July 25, 2011|By Rachel George| Orlando Sentinel]

“University of Central Florida football player Ereck Plancher died after a preseason practice from complications of sickle cell trait. Intitally the jury awarded $10 million dollars to the parents.

However, “a ruling by a Florida appeals court on Friday has reduced a $10 million damage award to $200,000 in a wrongful death lawsuit filed by the family of UCF’s Ereck Plancher.

“UCF’s power of control over its athletics association is sufficient for sovereign immunity afforded to state agencies in civil judgments, reducing the original award to the 19-year-old’s parents received in July 2011 to $200,000.. Any award above $200,000 now has to be approved by the legislature.

[Aug 16, 2013 AP ESPN]

EXERTIONAL SICKLING

• “Sickle cell trait was the primary cause of death for 15 out of the 2,387 athlete deaths recorded in the 30-Year U.S. National Registry of Sudden Death in Athletes.[ 28]

• “Young athletes with sickle cell trait may be at an increased risk of heat-related illnesses and their complications.[ 29]

• “Predisposing factors to exertional sickling include heat, dehydration, altitude, asthma, high intensity exercise with few rest intervals. [30]

[28 Minneapolis Heart Institute Foundation.
29 Pretzlaff RK. Death of an adolescent athlete with sickle cell trait caused by exertional heat stroke. Pediatr Crit Care Med. 2002;3(3):308–310.
30 Eichner RE. Sickle Cell Trait. J Sport Rehab. 2007;16:197–203.]

“Sickle cell trait warning signs

— Abnormal fatigue
— Weakness or difficulty standing
— Pain
— Swelling of muscles
— Difficulty breathing
— Leg or lower back pain
— Cramping, especially in the legs or lower back
— Muscle weakness that sometimes causes a person’s legs to shake under their own weight
— Difficulty holding head up
Sickle cell trait treatment
— Stop, rest and drink water at the first sign of symptoms.
— Most athletes recover quickly with rest, but if their conditions do not improve it should be treated as a medical emergency.
— Check vital signs
— Cool the athlete, if necessary
— Administer high-flow oxygen
— If vital signs decline, call 911, attach an AED, start an IV and get the athlete to the hospital fast
— Tell the doctors the athlete has sickle cell trait and may be suffering from exertional sickling.[Source: National Athletic Trainers’ Association sickle cell trait consensus statement Sickle cell trait warning signs Orlando Sentinel July 24, 2011]
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Concerns for the Athlete with Sickle Cell Trait

Gross Hematuria and renal Issues
• Splenic Infarction
• Exertional Rhabdomyolysis
• All can be life threatening

Renal Problems
• Gross hematuria
• massive often recurrent bleeding
• renal papillary necrosis
• Treatment: hydration, alkalinization, observation
• Hyposthenuria – impaired concentrating ability
• Relative hypertonia, acidosis, hypoxia of renal medulla predisposing to “sickling”
• Splenic Infarction
• Can occur in AS, typically at altitude
• Typically causes LUQ pain, often with N/V and
• splenomegaly
• The risk increases with increasing altitude
• The lower oxygen environment predisposes to intravascular polymerization of sickle hgb
• Vigorous exercise may increase the risk
• Exertional Sickling:
• severe hypoxia
• metabolic acidosis
• hyperthermia in muscles
• red cell dehydration
• Exertional Rhabdomyolysis – Skeletal muscle injury resulting in release of myoglobin and creatine kinase into circulation, Makaryus, et al, Hematology 2007;12: 349 Severe cases result in renal failure and death Risk factors: high temperatures and humidity, poor physical conditioning and inadequate fluid intake, underlying/recent viral illness
• hyperphosphatemia, hypocalcemia, lactic acidosis, and hyperuricemia
[The Student Athlete with Sickle Cell Disease / Trait by Cynthia Gauger, MD Nemours Children’s Clinic]

“Exertional Sickling can occur in Sickle Cell Trait as a result of hypoxemia and reduced blood flow from extreme physical training, at forced pace, in very hot conditions, and/or if the athlete becomes dehydrated and has other medical conditions that restricts oxygen to the lungs, such as asthma.

“Exertioanl sickling is the leading cause of sudden death in athletes. Sickle cell trait complications from Exertional Sickling that occurs when the sickling cells create a “log jam” in blood vessels and stop the blood flow to various parts of the body. This can cause rapid muscle breakdown, overwhelm the kidneys, acute focal spleen infarction, infection in the lungs, retina, kidneys, bone and the brain. Pathologic stress fractures and bone necrosis,

“if severe enough in Sickle Cell Disease, are complications and probably can occur during extreme physical training and competition in Sickle Cell Trait.
[Exertional Sickling: Potentially Life-Threatening Condition for Youth with Sickle Cell Trait, Susan Yeargin, PhD, ATC and Randy Eichner, M.D., FACSM, MOM’s Team]
[Corey Stringer Institute] [National Athletic Trainers’ Association consensus statement: sickle cell trait and the athlete. National Athletic Trainers’ Association. 1-5]
[Eichner, ER. Sickle cell considerations in athletes. Clin Sports Med. 2011; 30:3,537-549]
[Eichner ER. Pearls and pitfalls: exertional sickling. Curr Sports Med Rep. 2010;9:3-4]
[Eichner ER, Anderson S. Exertional Sickling. In: Casa JD, ed. Preventing Sudden Death in Sport and Physical Activity. Sudbury, MA: Jones & Bartlett Learning; 2012;131-141]
[McGrew CA. NCAA football and conditioning drills. Curr Sports Med Rep. 2010;9:185-186]
_____________________________________________________________________
Feb 10, 2014
Serious Complications of Sickle Cell Trait can be lethal, during Sports Participation, with extreme exertion, when certain body conditions are manifest and environmental conditions are existent.

“CBSSports.com reported that a source confirmed Cal knew that Agu had tested positive for the sickle cell trait, but Batten said he was not permitted to confirm it. Sickle cell screening has been mandated by the NCAA since 2010.” [By Jeff Faraudo, San Jose Mercury 02/07/2014 ]

BERKELEY, Calif. (AP) — “California Golden Bears football player Ted Agu, age 21, died Friday morning after collapsing during a training run with his teammates.”[by Josh Dubow Huff Post Sports 2/7/2014]
______________________________________________________________________
“The parents of a Slippery Rock University basketball player who died two years ago after collapsing during an intense practice have sued the school and the National Collegiate Athletic Association, saying their son wasn’t screened for the sickle cell trait that contributed to his death and school officials didn’t do enough to help him.

“The lawsuit was filed late Friday by Jack and Cheryl Hill of Roselle, N.J., in Allegheny County Common Pleas Court. Their 21-year-old son, Jack Jr., died on Sept. 10, 2011, shortly after midnight.
The lawsuit contends the NCAA began screening Division I players for sickle cell in 2010 but didn’t require that of Division II player until 2012. Slippery Rock is a Division II school. Division III schools had to start screening players Aug, 2013.

“According to the lawsuit, the NCAA was aware that sickle cell trait-related complications “were the No. 1 cause of student-athlete deaths during the first decade of the 21st century.”

“The lawsuit argues that Hill might have been excused from some of the more strenuous workouts had school officials known of his sickle cell trait, and that trainers and other school officials might also have responded differently and more effectively had they known of Hill’s condition.
[Family Sues Slippery Rock, NCAA Over Sickle Cell Death, NBC, By Joe Mandak Sep 9, 2013]
______________________________________________________________________

“OXFORD – Ole Miss football player Bennie Abram died Feb. 19 due to complications from sickle cell trait with exertion and a contributing factor of Cardiomegaly, according to the autopsy report, Dr. Jeffrey Dennis said Monday.

“Abram – a 5-foot-9, 186-pound walk-on safety – collapsed at the Indoor Practice Facility approximately 15 minutes into a morning workout on Feb. 19 and was taken to Baptist Memorial Hospital in Oxford where his condition briefly improved before he died at 12:11 p.m.

“The autopsy results were completed Friday, nearly three months after Abram’s death.
[Sickle cell trait cited in autopsy of player, May 18, 2010 by Cortney Westbrook Northeast Mississippi Sports]

_____________________________________________________________________

“St. Petersburg, Fla. — Lance Kearse had a game-high 22 points and 11 rebounds for Eckerd in the 80-64 win over rival Tampa. It was a typical night for Kearse during a strong senior season for the Tritons’ forward.

Kearse has always looked and played like an elite basketball player.The problem was his body didn’t allow him to be the best he could be, despite his best efforts.

“When I was younger, I would get tired really fast,” Kearse said. “Faster than everybody else, so I just thought I wasn’t in shape.

“So I tried to run more, work out more to try to keep up with my peers. It was things like that that made me used to wonder,”‘Am I ok?'” Kearse was not ok.

“During a workout early in his freshman year at VCU, Kearse was taken to the hospital after battling serious fatigue and uncontrollable cramping. He nearly lost his kidneys as a result of severe dehydration.

“He struggled to play 10-15 minutes per game during two frustrating and painful seasons at VCU.
“While everything was at its worst,” Kearse said. “I kind of felt like I was gonna die.”

“Kearse left VCU and landed at Eckerd, just two hours from his Ft. Myers hometown. He continued to struggled with fatigue and cramping until a blood test performed during a physical.

“The test revealed that Kearse had the sickle cell trait, which earned headlines after the death of UCF football player Ereck Plancher.

“When they said sickle cell trait,” Eckerd head coach Tom Ryan said. “(Lance) was really afraid.”
“When I was told how serious the sickle cell trait was,” Kearse said. “It kind of hit me.”

“Fortunately for Kearse, he was properly diagnosed.

“While there is no guarantee, Kearse is able to treat the condition. He receives pre-game IV fluids and performs extensive stretching to help prepare his body. He also is a self-described expert on amino acids, so he tries to maximize his effort off the court to assist on it.

“The numbers don’t lie. Kearse is averaging 28.2 minutes per game, which is third most for the Tritons. He has helped Eckerd to a 9-4 record, including back-to-back wins over Rollins and Tampa.

“After all the struggles, the NCAA granted a fifth year of eligibility to a player who can serve as an example for every player to get tested for the sickle cell trait.

“He’s not afraid for his life every time he steps on the basketball court,” Ryan said.

“I know exactly what I am, who I am, what I have,” Kearse said. “Life’s fun now.”
[Kearse handles sickle cell, hoopsTravis Bell, St. PEtersberg,10 News Jan 13, 2012]

__________________________________________________________________________

“Sickle cell trait is linked to more deaths of college football players than any other cause since 2000. But some experts wonder if the workouts are the real problem.
[The Student Athlete with Sickle Cell Disease / Trait by Cynthia Gauger, MD Nemours Children’s Clinic]

___________________________________________________________________________

“In 2001, FSU linebacker Devaughn Darling collapsed in Tallahassee while participating in those offseason mat drills. Darling’s death was later attributed to complications from sickle cell trait, a condition in which red blood cells collapse from their normal round shape and sickle during extreme duress. The warped blood cells become crescent-shaped, sticky and can block blood flow, sometimes causing major organ damage and even death.

“Darling is one of nine college football players whose deaths have been tied to sickle cell trait since 2000. That almost all those deaths have come in the offseason is baffling to Terry Bowden and many others.

“We’re not training our players to run marathons or enter mortal combat,” said Bowden, now the coach at Division II North Alabama. “We’re supposed to be getting them ready to play a football game.”

“Overwhelmingly in the past 11 years, more non-traumatic football deaths have occurred from complications from sickle cell trait than any other cause. It has accounted for nine of the 21 non-traumatic deaths in that time despite the trait existing in just 8 percent of African-Americans. It accounts for an even lesser extent in Hispanics, Caucasians and other ethnicities. And while the trait has been linked to deaths in other sports and at other levels, it has affected a much greater number of college football players.

“A study led by Dr. Kevin M. Harris, director of the echocardiography laboratory at the Minneapolis Heart Institute, found that while deaths related to sickle cell trait are rare, they occur mostly in football.

There is “convincing evidence of a causal relationship between the sickle cell trait and the deaths of young, black competitive athletes, especially football players,” says the study’s senior author Barry J. Maron, MD, director of the Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation. The study will be published in the October edition of the American Journal of Cardiology, but currently is available online.

“Maron, who has been assessing cardiovascular-related deaths of young athletes for approximately 35 years, is surprised at the level of skepticism he’s witnessed regarding the sickle cell trait as a cause of sudden in young, black athletes, even in the scientific medical community.

“In the study, the researchers concluded that the sickle cell trait “can be associated with largely unpredictable sudden collapse and death and apparent predilection for African American college football players during conditioning. Understanding the risks, mechanisms, and event triggers of the sickle cell trait may allow lifesaving alterations in training methods to be implemented.”

“In order to implement such lifesaving alterations in training methods, particularly due to the unpredictable nature of sickle cell trait events, there needs to be a greater understanding and acceptance of this lethal connection. “To not acknowledge this link between sickle cell trait and sudden death creates the possibility of a failure to fully protect the athlete community,” Maron said. [ Sickle cell trait can cause sudden cardiac death in black athletes: Why is this controversial? Dr. Kevin M. Harris Minneapolis Heart Institute Foundation 25-Jul-2012]

“There have been a plethora of articles today saying Willie Cauley-Stein looked out of shape during a recent Sacramento Kings practice. That had me thinking about a Willie interview where he spoke about a sickle cell problem back in 2013.” [Did Everyone Forget Willie Cauley-Stein’s Sickle Cell Problem? Nation of Blue October 5, 2015]

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