Get tested for sickle cell trait

Published 8:36 pm Friday, September 24, 2010

Couples in high-risk groups for sickle cell diseases can make better-informed long-range decisions by learning their genetic makeup before pregnancies occur, says Southwest Georgia Public Health Director Jacqueline Grant.

“More than 70,000 people in the United States have sickle cell disease, and approximately 2.5 million people carry the gene that allows them to pass it on to their children,” she explained.

“Testing can be done prior to conception, which is ideal for those in high-risk groups. It should also be done prenatally for those at risk who do not already know their carrier status,” she said.

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There are different types of sickle cell disease, depending on the genetic material a child inherits from parents. People who inherit two sickle cell genes—one from each parent—have a type of sickle cell disease called SS. Often referred to as “sickle cell anemia,” it is generally the most severe form of the disease.

“Persons with sickle cell disease have red blood cells that are shaped like the C-shaped cutting blade called a sickle,” Grant said. “Healthy red blood cells are round.”

The sickle-shaped cells can get stuck inside blood vessels, blocking the flow of oxygen, which can lead to tissue destruction, organ damage and death, said Grant.

In addition, the sickled red blood cells are more likely to be destroyed as they circulate through the body than round ones. With fewer red blood cells to carry oxygen to tissues, anemia results. The anemia can be life threatening.

Patients may experience acute painful episodes accompanied by low-grade fevers, referred to as pain crises, which may occur spontaneously or as the result of infection or dehydration, Grant said.

Complications of the disease vary from patient to patient. Vision loss, leg ulcers and frequent infections (including potentially fatal pneumonia) may occur.

Other complications may include the destruction of bone and the spleen.

Since the loss of a functioning spleen makes sickle cell patients more susceptible to meningococcal and pneumococcal infections, the CDC recommends vaccinations for protection from these organisms.  

“Those at highest risk of the disease are of African, Hispanic, Middle Eastern, Mediterranean and Indian descent,” Grant said. “One in 12 African-Americans has sickle cell trait. People with sickle cell trait—having inherited one sickle cell gene and one normal gene—usually do not have any of the symptoms of the disease. However, it is possible for a person with sickle cell trait to have complications under extreme conditions. Further, they can pass the disease on to their children.”

If both parents are carriers (have the sickle cell trait), they have a 25 percent chance of having an infant with sickle cell disease, she said.

“Genetics testing can be done during the pregnancy to determine if the fetus has the disease if both parents are carriers,” Grant said.

In Southwest Georgia Public Health District, around 25 adult and 20 pediatric patients receive services during monthly sickle cell clinics, said registered nurse Daneta Kegler, who coordinates the district’s Children’s Medical Services.

“Enrollment in the Children’s Medical Services program is not required for sickle cell patients to be seen at these clinics,” Kegler said. “We want people to know the sickle cell clinics exist and are available to those in need of their specialized services.

The Albany Sickle Cell Foundation partners with Public Health to raise community awareness and provide assistance to sickle cell patients and their families, including obtaining medications for patients if needed.