Blood clots are more common in people of different ancestry who carry the sickle cell gene mutation

Press release

Thursday, September 12, 2024

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Researchers discover that sickle cell trait affects diverse populations

Researchers and collaborators at the National Institutes of Health have discovered that having sickle cell disease or being a "carrier" is not as harmful to your health. sickle cell traitThe risk of blood clots is increased in various populations, including those not typically associated with sickle cell disease. This study estimates the clinical risks of individuals with sickle cell trait and can be used to inform clinical practice guidelines. The study examined data on the most diverse and largest group of sickle cell trait carriers to date. This included more than 19,000 individuals with diverse ancestral backgrounds.

This study was published in Blood Advances Researchers from the National Human Genome Research Institute, part of the NIH and Johns Hopkins University School of Medicine in Baltimore, and 23andMe in South San Francisco, California, conducted the study.

In previous research, the association between blood clots and sickle cell trait has only been studied in individuals of African genetic ancestry or who identify as Black. This is because there has been a mistaken assumption that genetic carriers are only those who identify as Black. In the United States, sickle cell trait is more common in people who identify as Black or African American. However, sickle cell trait can affect anyone. Individuals from West and Central Africa, as well as Mediterranean Europe, India, and the Middle East, are more likely to have sickle cell trait.

Because sickle cell trait is associated with Black and African Americans, it has not been widely studied in other populations. This bias, which has led to unintended harms for people with sickle cell trait, was explained by Vence Bonham Jr. JD, NHGRI interim deputy director and research associate. Racialization and misunderstanding of sickle cell trait have led to biased estimates of health risks. The results of our study will allow clinicians to properly contextualize blood clot risk in people with sickle cell trait without bias.

The people in this study were part of the 23andMe research program. They voluntarily participated in an online study and gave informed consent to allow their data to be anonymized and shared with collaborators. The researchers calculated the risk of blood clots that form in the veins (also called venous embolisms) using data collected from the research cohort of more than four million people. Participants were divided into groups based on genetic similarity through statistical analysis. The researchers found that people with sickle cell trait had a 1.45 times higher risk of developing a venous embolism than people without the trait. This risk was similar across all genetic groups studied.

Researchers compared the risk of blood clots in people with sickle cell trait to that of other carriers. Factor V LeidenA well-known blood clotting disorder. Researchers have discovered that people with factor V, which tends to be more common among Europeans, have a higher risk of venous embolism.

Researchers have discovered that people with sickle cell trait are at higher risk for pulmonary embolism, a blood clot. A blood clot that breaks free from the deep veins travels up the bloodstream to the lungs and blocks blood flow. People who suffer from pulmonary embolism do not necessarily experience symptoms. However, some people may experience chest pain, shortness of breath, and even fainting.

This study confirms previous findings that people with sickle cell trait have a higher risk of blood clots in their lungs than in their legs alone.

This study provides valuable information about venous clot patterns in patients with sickle cell trait and suggests that they may have a specific blood clotting mechanism. Rakhi Naik, MD, is the clinical director of the Division of Hematology at Johns Hopkins University in Baltimore. She was the co-leader of the study. Knowing the risks associated with blood clots for people with sickle cell trait can be helpful in situations like surgeries and hospitalizations that increase the likelihood of serious blood clots.

More than 2 million people In the United States, there are people with sickle cell trait. Sickle cell trait is a condition in which people have one copy of each of the gene variants that cause sickle cell disease. It is a genetic disorder that makes red blood cells sticky and rigid, blocking blood flow. People with sickle cell trait are usually not affected by health problems, but they can be carriers of sickle cell disease. Rarely, sickle cell trait is a factor in health complications such as muscle breakdown, blood in the urine, and kidney disease.

National Human Genome Research Institute The NIH is one of 27 centers and institutes within the Department of Health and Human Services. The NHGRI's Intramural Research Division is responsible for developing and implementing technologies that help diagnose, treat, and understand genomic diseases. More information about the NHGRI can be found at the following website: https://www.genome.gov/.

The National Institutes of Health: The NIH is the medical research agency of the U.S. Department of Health and Human Services. It comprises 27 institutes and centers. The NIH, the national medical research agency, is part of the U.S. Department of Health and Human Services. It is responsible for conducting basic, translational, clinical, and other medical research. Visit the NIH for more information about its programs. www.nih.gov.

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