It is a trait that occurs when a person inherits a single gene for a disease and it impacts 8 to 10 million African Americans and tens of millions more people worldwide, according to the U.S. Centers for Disease Control and Prevention.
The sickle cell trait is not a disease but can cause health issues, and the gene can be passed on to children, according to the American Society of Hematology.
Now, UConn Health’s New England Sickle Cell Institute is performing a clinical research study that may link those living with the sickle cell trait to early onset osteoporosis.
The study is a collaboration between Dr. Biree Andemariam, founder and director of the New England Sickle Cell Institute, and Dr. Marja Hurley, a UConn professor of medicine and orthopedic surgery.
Andemariam said she was interested in understanding the basic issues in the sickle cell trait, not to be confused with sickle cell disease, which are not completely understood. She joined forces with Hurley, an expert in bone diseases.
The two “were talking one day, and I learned her research is heavily in osteoporosis and were talking about people sickle cell disease developing osteoporosis, or thinning of the bones, much earlier than the general population. We wanted to find the mechanisms of that and to see if those with sickle cell trait were also at a higher risk for osteoporosis,” Andemariam said.
Sickle cell disease, which also is inherited, impacts red blood cells and those with sickle cell disease “have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin,” according to the Sickle Cell Disease Association of America. “Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels” which can damage tissue. The disease can cause excruciating pain.
While inheriting the trait can cause health issues such as blood in urine, a spleen issue, eyesight issues, and dehydration, it does not cause sickle cell disease, according to the CDC.
There are about 2.5 million people in America with sickle cell trait, according to the Sickle Cell Disease Association.
The study
Hurley used the sickle cell mouse model to try to understand what are some of the basic biological reasons for the accelerated loss of bone cells.
“She identified that mice with sickle cell traits, which is just the carrier state of sickle cell, also had accelerated bone loss,” Andemariam said. “We thought that was profound because if what we were seeing in the mice with sickle cell trait holds true for people with people with sickle cell trait this could be another disparity trait.”
Andemariam also noted that the sickle cell trait is hereditary and to have sickle cell disease, the person would need two copies of the specific gene that causes it. People with the sickle cell trait have one copy of that gene.
According to the Centers for Disease Control and Prevention, there are about 100,000 Americans living with sickle cell disease itself.
Andemariam said that the sickle cell trait is the most commonly identified abnormality found in newborn screening in Connecticut and that sickle cell disease is the most common abnormality found in newborn screening in the state.
Andemariam said about 1,000 babies, 1 in 60, are born with sickle cell traits every year in the state and about 25 babies are born in Connecticut with sickle cell disease each year. She said the state started testing babies uniformly in the 1990s. Andemariam added there are thousands of sickle cell disease patients in Connecticut and even more with the sickle cell trait.
Andemariam said the majority of people who have the sickle cell trait don’t know they have it. She has worked with the Connecticut Department of Public Health to try to improve sickle cell trait notification following diagnosis. That information is helpful to people who want to be parents. Andemariam said if two people with the sickle cell traits have a baby, that child would have a 25% chance of having sickle cell disease.
The sickle cell trait clinical research study is seeking women of African descent (Black, African American, African, Caribbean), 50 years old or older, have not had any menstrual bleeding in the last 12 consecutive months, have no known metabolic bone disorders, are not taking an investigational drug, oral contraceptives or medications known to influence bone metabolism.
Those participating in the study will have blood drawn, a bone X-ray scan to measure bone mineral density and muscle mass and non-invasive frailty/physician performance tests such as a six-minute walk. Participants do no need to know if they have the trait to participate.
Andemariam said the goal is to identify whether people with the sickle cell trait will develop early onset osteoporosis. Recruitment began three years ago and they hope to have full analysis within the next year or two.
“We call this translational research where you take observations that scientists make in the laboratory and you connect with clinicians or people who take care of human beings, and you work together,” Andemariam said.
Andemariam said she was grateful for those who have volunteered in this and all research studies.
“This is the only way we physicians and scientists are able to advance care and come up with better treatments for people. This is a plea for people to volunteer. Even if it won’t help you, it will help someone else,” Andemariam said.
West Hartford resident Jean Martin has the sickle cell trait and volunteered to be a part of the study. She said her and her son have the trait but doesn’t know anyone else with sickle cell. Martin is a cancer survivor, but the sickle cell trait had no effect on that.
“The trait hasn’t affected me,” Martin said. “I saw an ad somewhere that UConn was looking for African American women, and I thought I could do something to help. I called the number and was interviewed. I had blood drawn. I spoke about the trait and if it had any impact on my life. … I thought I could do something to help others.”
Martin is a retired English teacher from Hall High School in West Hartford and was also an adjunct professor at UConn.
Martin has drawn strong praise from UConn for her willingness to be part of the research.
Handling the disease itself for UConn patients
Andemariam said prior to the UConn Health New England Sickle Cell Institute being opened, the hospital was caring for about 10 sickle cell patients at UConn when she arrived in 2007. She found a disparity in care and would see the same sickle cell patients hospitalized over and over again.
“I realized it wasn’t a UConn issue. It wasn’t a Connecticut issue. It is a national issue. Where adults with sickle cell disease were left in no-man’s land without consistent care,” Andemariam said.
“These individuals identified at birth with the disease and immediately put into care and followed until adulthood. Then they would fall out of care because there weren’t enough hematologists with the experience, expertise or interest to take care of this population of patients.”
“Instead of patients getting care through emergency departments and hospitalizations we changed the course of care, and we gave the majority of their care in our office where chronic conditions should be managed,” she added.
Andemariam said UConn patients aren’t hospitalized as much and aren’t in the emergency room as much and that their sickle cell disease is much more under control and her patients are offered all of the FDA approved treatments including specialized transfusion.
“We also coordinate them with other specialists because their disease affects every organ in the body,” Andemariam said.
Dr. Genice Nelson has been at the New England Sickle Cell Institute since 2012, and the nursing director said great improvements in sickle cell care in recent years.
“In the 110 years sickle cell disease has been studied and treated, in the last three years these breakthroughs have been very promising that there could be something more curative that is readily available to the general patient population quicker than there has ever been hope for in the past,” Nelson said.
Nelson said she contests what she calls “the myth” that sickle cell is a disease only for Black people. It is more prevalent in Black populations.
“We have a significant patient population of Hispanic individuals. We have a patient population that is caucasian. We have Pan Asian patients as well. But people have it stuck in their head for whatever reason that it’s a Black disease,” Nelson said. “We are so focused on the young Black man or the young Black girl that has sickle cell disease and that is not the face of the patients that I see. My patient population is very mixed. The disease affects individuals differently. It’s about how the disease manifests in their bodies.”
Nelson said she has two patients who are sisters, with the same parents, and both have sickle cell disease. One is in pain all of the time and the other sister has no issues and lives with no effects from the disease.
The disease itself (not just the trait) impacts a population that is more than 90% non-Hispanic Black or African American, with about 3%–9% having Hispanic or Latino heritage, according to the CDC.
Women interested in participating in the clinical study are asked to call Zoe Green at 860-921-3102.