Photo credit: www.sciencedaily.com

New Study Challenges Myths Around Sickle Cell Trait and Sudden Death

A systematic literature review has revealed a lack of evidence supporting claims that physical exertion without complications such as rhabdomyolysis or heat injury can lead to sudden death in individuals with sickle cell trait (SCT). Furthermore, there is no substantial proof that SCT results in acute pain crises. These findings, published in the prestigious journal Blood by the American Society of Hematology (ASH), have informed the Society’s revised stance on SCT.

“SCT has been subject to significant misunderstanding, resulting in widespread misinformation about its effects, particularly the erroneous belief that it can lead to sudden death. This misconception disproportionately affects Black men with SCT,” stated Belinda Avalos, MD, president of ASH. “Recognizing the damaging nature of this myth, the Society seeks to provide accurate information to empower and protect the communities involved.”

Individuals with SCT carry one copy of the gene linked to sickle cell disease (SCD), a serious blood disorder characterized by abnormally shaped blood cells that can obstruct blood flow, potentially leading to severe pain and infections. Despite affecting over 100 million people globally, including 8 to 10% of Black Americans, SCT is not classified as a disease. Those with SCT typically do not develop SCD or face related health issues.

According to Michael R. DeBaun, MD, MPH, a professor at Vanderbilt University School of Medicine and the director of the Vanderbilt-Meharry Sickle Cell Disease Center of Excellence, “This is the most definitive and comprehensive review conducted on this topic so far. The review indicates that attributing any form of death directly to SCT is not supported by medical evidence.”

ASH brought together a panel of experts, including hematologists and forensic pathologists, to meticulously assess existing research with two main queries: 1) Are acute pain crises prevalent in individuals with SCT? 2) Is there a risk of sudden death associated with physical activity in these individuals?

A comprehensive search across multiple databases for English-language research articles on SCT concerning pain crises and mortality yielded 1,474 citations. However, only seven of those studies provided original data, conducted laboratory testing for SCT, and directly addressed the core questions posed by the panel.

None of the studies compared acute pain crises in SCT individuals to those with SCD, and only one study discussed fatalities linked to SCT, which involved active-duty U.S. soldiers. This research indicated that while SCT elevated the risk of heat-related exertional rhabdomyolysis, it did not correlate with a heightened risk of death from any cause. Following the adoption of safety measures to prevent heat-related injuries among military personnel, the risk of death between SCT individuals and those without SCT was comparable.

“Individuals with SCT are not at risk for sudden death unless they suffer from conditions like exertional rhabdomyolysis or crush injuries,” explained Dr. DeBaun. He emphasized that even under extreme environmental conditions, unexplained sudden deaths cannot be linked to SCT, reinforcing that “the possibility of SCT alone or pain crises being responsible for sudden death in these individuals is medically unsupported.”

While examining the existing literature, the expert panel noticed some studies that suggested the presence of sickled cells at autopsy as evidence of a fatal acute pain crisis in SCT individuals. However, they found no studies providing human data to substantiate this theory, nor sufficient clinical descriptions to support a diagnosis of acute pain crisis prior to death.

Lachelle D. Weeks, MD, PhD, a corresponding author and assistant professor at Harvard Medical School, remarked, “In medicine, particularly in post-mortem examinations, our diagnoses must be scientifically valid and based on sound medical evidence. Given our findings, it’s essential that post-mortem evaluations assess for rhabdomyolysis and other medical or traumatic death causes.”

Despite some limitations in the review, particularly the absence of high-quality, peer-reviewed direct evidence, the panel incorporated indirect evidence when assessing the findings and utilized the GRADE framework to evaluate evidence certainty. The experts are hopeful that this review will inspire further research into SCT.

Following this study, ASH has updated its position statement to clarify that listing “sickle cell crisis” or “sickle cell trait” as a cause of death in autopsy reports for individuals with sickle cell trait lacks medical accuracy and evidential backing.

Source
www.sciencedaily.com