Most CT residents who carry a trait of sickle cell disease are unaware. But it “should be standard care”. – Hartford Courant
Most Connecticut residents who carry a trait for sickle cell disease are unaware, leaving thousands of people unknowingly at risk of giving birth to a child with the debilitating disease, according to sickle cell disease experts.
The reasons for this vary: there is a lack of knowledge about the results of newborn tests for the trait, parents do not always share test results with their children, gaps in state record keeping, and state records that only identify people with the disease or trait identify Go back to 2012. Also, doctors typically only test for the trait when a patient requests it. And people often don’t know they can have the trait, even if sickle cell disease doesn’t run in their family.
dr Biree Andemariam, director of the New England Sickle Cell Institute at UConn Health, said doctors should include trait testing in routine checkups. “It should be standard care,” she said.
“It’s like knowing your blood pressure. At the end of the day, when I’m a doctor treating a patient, it should be my responsibility,” Andemariam said.
Sickle cell anemia is a genetic blood disorder characterized by episodes of excruciating pain and can cause organ and joint damage, stroke, anaemia, and infections. According to the Sickle Cell Disease Association of America, the average life expectancy for a person with the disease is in their mid-40s.
The disease primarily affects black people and also occurs in Latinos and people of Indian, Middle Eastern, Caribbean and Mediterranean origin.
The sickle cell trait usually causes no symptoms and never progresses to sickle cell disease. It becomes significant when carriers become parents. If both parents have the trait, there is a one in four chance that each child will develop sickle cell anemia. If a parent has the trait, it can be passed on to any child.
Nationwide, more than 2.5 million people, mostly black people, have the trait, the association reports.
Connecticut began testing all newborns for sickle cell anemia and the sickle cell trait in 1990. According to state Department of Health statistics, 17,952 babies were born with the trait from 1991 to 2021. There is no data reflecting babies born before testing began, or the number of Connecticut residents born in other states or countries.
Adding to the information gap is the fact that there is no record of the state reporting positive trait results for babies born before 1995 five years after testing began, according to DPH spokesman Christopher Boyle. The earliest known DPH protocol for reporting traits was created in 1995, when letters were sent to GPs and parents whose babies tested positive for the trait, Boyle said in an email. Statistics from the department show that 2,175 babies were born with positive test results from 1991 to 1994, before the notification protocol was enacted.
Andemariam said when babies are born with this trait, parents are told it is not an immediate health issue. “That information isn’t stored very well when a mother or father hears their baby has this thing, and it’s not going to cause them any problems,” she said.
“Sickle cell trait status will not have a significant impact on this child until they have children of their own,” she said. The result is that parents don’t typically instill trait status in their children, she said.
Because the state didn’t identify the data until 2012, “this information isn’t available,” she said, when a Connecticut adult wants to know the results of their newborn trait tests.
dr Donna Boruchov, medical director of Connecticut’s children’s sickle cell program, said positive trait results “should be released at birth and should be re-released when they are 18 years old.”
Andemariam said she encourages mothers to keep the results of newborn screening when doing community education, just as they would keep birth certificates “to have with your child for life so they know their status.”
In 2017, the state stopped sending positive trait results to parents, said Boyle, the DPH spokesman. Instead, he said, they’re sent to baby doctors, who are expected to share them with parents.
Testing for the sickle cell trait can be done in doctor’s offices, laboratories, or at the Connecticut chapter of the Sickle Cell Disease Association of America in New Haven.
According to the Centers for Disease Control and Prevention, one in 13 African American babies is born with this trait. A DPH chart from newborn screening programs shows it occurred in 1 in 62 of all Connecticut births from 1990 to 2003. There is no racial breakdown.
Trait testing is key to preventing the disease, said James Rawlings, Connecticut Chapter President of the Sickle Cell Disease Association. “We hear too often ‘if only I had known,'” he said.
Luzibu Chevannes of West Hartford was diagnosed with sickle cell disease at the age of 9 months. Her pediatrician tested her because her parents are from the Democratic Republic of the Congo, which has the second highest incidence of sickle cell disease in the world after Nigeria.
Chevannes is now 33 and married and wants to have a baby. Her husband Boris, of Jamaican descent, tested positive for the trait.
The couple decided to use preimplantation genetic diagnosis combined with in vitro fertilization (IVF) to have a baby. This means their embryos will be screened for sickle cell anemia and only one embryo will be implanted without them. Also, since she is prone to life-threatening blood clots, she will ask a relative to be a surrogate mother.
“I just don’t want to take the risk of having a kid with sickle cell disease and having him miserable his whole life,” said Chevannes, whose symptoms include unpredictable, throbbing episodes of pain and chronic hip pain. In 2020, she had a stroke that affected her vision. She also suffered from blood clots in her lungs, seizures, respiratory failure and pneumonia.
Andemariam said she has “seen decisions in every direction imaginable” after patients with the condition learned their romantic partner has the trait. “It’s devastating,” she said.
Some couples separate before they become pregnant. Others use IVF, continue a pregnancy, terminate a pregnancy, adopt a child, or if one child is born with the condition, choose not to have another.
Boruchov of Connecticut Children said couples should be tested, even as they say the results don’t stop them from going ahead with a pregnancy. She said it’s important for those who test positive to know what to expect if their child is born with the disease.
Ashanti Rivera, 32, from Waterbury, who is black, has the trait. She was tested at birth in New York. Relatives, including her 24-year-old half-brother, have the disease. He is doing poorly with kidney failure and heart problems. Two cousins experience severe pain crises that require hospital visits.
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During Rivera’s first pregnancy, her Puerto Rican heritage husband Xavier tested negative for the trait. They now have six children, ranging in age from 9 to 13 months, and all have the trait.
Rivera said she plans to tell them when they’re in their mid-teens “when they’re talking about relationships, babies and knowing your property.”
In Connecticut, professionals working with youth with the condition inform them to ensure their sexual partners are tested for the trait. “I want them to be prepared for their explorations,” said Dr. Cecelia Calhoun, director of the sickle cell program for adolescents and young adults at Smilow Cancer Hospital. “I definitely talk to them about how sickle cell is inherited when they’re ready to be sexually active or to be with a partner,” she said.
Sickle cell specialists treat patients at Smilow, Connecticut Children’s, UConn Health, Bridgeport Hospital and Yale New Haven Hospital.
It is estimated that around 100,000 people have sickle cell disease nationwide, although there is no national registry to track it closely. Teresa Works, a UConn Health social worker for sickle cell disease patients, said “the numbers are elusive” because people are traveling in and out of the country and state, and people with mild forms of the disease may see private doctors and may not be accounted for in statistics.
As of 2006, all 50 states, the District of Columbia, Puerto Rico, and the US Virgin Islands are testing newborns for the disease and trait. New York was the first, starting in 1975.
This story was created through a partnership with the Connecticut Health I team (c-hit.org), a nonprofit news organization dedicated to health reporting.