• Posted January 27, 2023

Got an Extra Chromosome? It Could Harm You

Researchers have uncovered a serious risk for folks who have an extra X or Y chromosome.

Those with the genetic condition known as supernumerary sex chromosome aneuploidy have a risk for blood clots in a deep vein or lung that's four or five times higher than usual, a new study shows.

"An additional X or Y chromosome is more common than many people think, but it does not often receive clinical attention,"said study co-author Matthew Oetjens. He's an assistant professor at Geisinger Health System's Autism & Developmental Medicine Institute in Union County, Pa.

"Our study shows that there are underappreciated health risks associated with these disorders that could change medical care if known in advance,"Oetjens added in a health system news release.

Deep vein blood clots and those in the lung (pulmonary embolisms) are types of venous thromboembolisms (VTE). This condition affects 900,000 people in the United States each year. It's often a complication for patients in intensive care and those with cancer or COVID-19.

"VTE is a life-threatening, but preventable disease,"said the study's first author, Alexander Berry, a staff scientist at Geisinger. "It is important to identify individuals at high risk for VTE to minimize unnecessary illness and death."

For the study, the investigators analyzed genetic and electronic health record data on more than 642,000 people enrolled in Geisinger's MyCode Community Health Initiative and the UK Biobank.

About 1 in 500 Geisinger patients had an additional X or Y chromosome in their genome, putting them at increased risk for blood clots. Females are typically XX. Males are typically XY.

The loss of an X or Y chromosome, known as Turner syndrome, did not appear to be associated with a higher risk of blood clots.

More research is needed, the study authors said.

The findings were recently published in the Journal of the American Medical Association.

More information

The U.S. National Heart, Lung, and Blood Institute has more on venous thromboembolism.

SOURCE: Geisinger Health System, news release, Jan. 25, 2023