Gloved hand holding blood samples.

U of M Researcher Tests Long-Held Sickle Cell Trait Beliefs

One out of every 365 African American babies in the U.S. are born with sickle cell disease, a chronic condition that can lead to a number of complications for children and adults including infections, pain and stroke.

People with sickle cell disease have inherited two copies of the sickle cell gene, one from mom and one from dad. That doesn’t mean that mom and dad have sickle cell disease, however. If a person only carries one copy of the gene, they technically have sickle cell trait and are usually symptom-free.

Sickle cell trait has long been thought of as benign, with rare exceptions involving athletes experiencing health problems at high altitudes and the implications for passing on the gene to a child. Dr. Sarah Reeves is a research assistant professor at the University of Michigan who studies sickle cell disease and she started asking for evidence to back up the claim that sickle cell trait has few ill health effects. Turns out, there really wasn’t any.

“We started thinking, ‘how do we know it’s no big deal?’,” Reeves asked.

So, she got to work, partnering with the Michigan Department of Health and Human Services (MDHHS) to assemble a team to investigate the issue. Grant funding from the Blue Cross Blue Shield of Michigan Foundation was used to kick off a research project.

Sickle cell trait occurs in about 8% of African Americans in the U.S., although only about 20% of affected individuals know they have it. It’s one of many health conditions that can be identified through newborn screening.

Because the Michigan Department of Health and Human Services (MDHHS) is able to link their newborn screening records to other data sets, including Medicaid claims, Reeves was able to compare health outcomes and health services utilization among children with sickle cell trait, sickle cell anemia and normal hemoglobin. With about 20,000 children in the sample, Reeves and her team looked at whether having sickle cell trait suggested a higher rate of health care use or symptoms such as ear or respiratory infections or incidence of flu.

“These kids (with sickle cell trait) do not seem to be at a higher risk, which is good,” Reeves said, noting that further study is needed.

The findings seem to validate an accepted notion about sickle cell trait – that it might not be that big of a deal clinically for those who have it. But, the results of the study have received interest from several prestigious publications. Reeves said she thinks historic inequities in studying sickle cell disease are making people take note.

“I think that there is becoming increased awareness that this has been a neglected group of people,” she said.

Because sickle cell trait and sickle cell disease predominately affect minority populations, Reeves said there’s potential for discrimination and stigma when it comes to treatment and research. She points to cystic fibrosis, which also affects a small proportion of kids but receives more than 400 times the foundation funding per child and more than 10 times the federal funding for research than sickle cell disease.

“Kids with sickle cell disease should also receive amazing care at the same level,” Reeves said.

Reeves has her sights set on more work to raise awareness of sickle cell trait, particularly with how to let people know they have it, what that means to the health of potential future children and steps they can take to make informed decisions about family planning.

If a couple both with sickle cell trait have a child, the baby has a 50% chance of having sickle cell trait, a 25% chance of having sickle cell disease and a 25% chance of having neither.

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Photo credit: Predrag Images

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