Babies born in Texas are screened for 53 rare medical conditions, including a group of disorders that affect red blood cells. One of those blood disorders is sickle cell disease.
Sickle cell and other blood disorder cases land on the desk of registered nurse Julianna Ybarbo of the DSHS Newborn Screening Unit. Ybarbo follows up on the cases, providing short-term clinical case coordination and education during the first few weeks after birth.
“Sickle cell disease isn’t as life threatening upfront as some of the other disorders we screen for, but what’s hard for people to understand is that it is a quietly devastating disease,” Ybarbo said. “Symptoms and damage could be occurring without a parent even knowing it.”
The disease, passed from parent to child, is caused by abnormal hemoglobin, the protein that transports oxygen from the lungs to the rest of the body. It causes red blood cells to become hard, sticky and sickle-shaped. People with the disease experience anemia, episodes of “pain crisis” that might include painful swelling of the hands and feet, and sometimes more severe problems like pneumonia and organ failure.
Texas law requires babies to be blood-tested twice after they are born. The first test is done 24 to 48 hours after birth and the second in one to two weeks. While young children don’t tend to experience the symptoms, getting treatment early makes a difference.
“It has been shown that with these disorders, the earliest possible diagnosis can save a baby’s life,” Ybarbo said. “It gives them a chance to get the earliest possible exam by a specialist, obtain additional lab testing and treatment and hopefully have a close-to-normal life.”
After testing is completed, Ybarbo immediately notifies the baby’s primary care doctor, provides them with information about the disease and ensures parents make and keep appointments for their baby.
“A lot of people don’t know what sickle cell disease is,” Ybarbo said. “They might have an idea, but parents looking at the baby only see a healthy, smiling, growing child. During this early period, it’s important to make that hematologist appointment.”
Ybarbo and her team also notify families and physicians about babies who have sickle cell trait, a condition in which a person carries one gene for sickle cell hemoglobin. This gene can be passed from parent to child.
“If both parents have the sickle cell gene, they’ll have a 25 percent chance of having a baby with sickle cell disease, a 50 percent chance that the baby will have the trait, and another 25 percent chance that the baby will not have either the disease or the trait,” Ybarbo said.
While the disease and trait are most common in people of African descent, people who are from Asia, India, Indigenous America, Latin America, the Mediterranean and Middle East can also be carriers.
To learn more, see the recently updated Sickle Cell section of the Newborn Screening Unit’s website.