As a child, Trenton, N.J., resident Elijah Bobbitt cried all of the time, and no one knew why. His body ached, his joints were sore and his muscles throbbed with incessant, excruciating pain.
After a litany of tests, including lab work, X-rays and a lot of poking and prodding, doctors determined that Bobbitt suffered from sickle cell anemia (SCA), a debilitating and frequently fatal blood disorder that disproportionately affects African-Americans. Bobbitt, 21, inherited the sickle cell gene from both his mother and father.
“I didn’t know anything about sickle cell anemia,” Bobbitt recalled. “All I knew was that I was always in a lot of pain and felt sick all of the time.”
For as long as he can remember, Bobbitt has made regular biweekly visits to the hospital and doctors to monitor his blood count. He also takes several medications, including Exjade, Singulair and multivitamins, all designed to control and regulate the disease.
What Causes Sickle Cell Anemia?
SCA is a genetically inherited recessive disease that affects about 100,000 Americans, according to statistics from the Centers for Disease Control and Prevention (CDC) in Atlanta. The disease affects 1 out of every 500 African-Americans and is potentially fatal.
Sickle cell disease occurs when two abnormal genes are passed from each parent to the child and manifests into the disease. People become sickle cell carriers when one normal gene and one abnormal gene is passed from each parent to the child, explained Carol Kenner, dean of the School of Nursing and associate dean of the Bouve College of Health Sciences at Northeastern University of Boston. Kenner noted that the gene linked to SCA is called the HBB gene and is located on chromosome 11.
When the oxygen content of a red blood cell gets low, the cell forms a sickle shape-hence the name sickle cell anemia. The odd shape of the red blood cells restricts blood flow throughout the body and causes pain and discomfort. The term “sickle cell crisis” is used to describe the acute condition that can occur in patients with the disease.
There is no cure. However, advancements in bone marrow and stem cell transplants may offer remission of the disease, but experts do not generally consider the procedure curative.
Some physicians believe that hematopoietic stem cell transplantation is indeed the only effective treatment for SCA. “Bone marrow transplantation is the only known cure for sickle cell disease,” said Ifeyinwa Osunkwo, a pediatric hematologist at Aflac Cancer Center of Children’s Healthcare of Atlanta. She added, “Gene therapy is another treatment alternative.”
Osunkwo noted that bone marrow transplants are performed more frequently on children living with SCA than on adults, due to the high rate of toxicity that can occur after the procedure.
In Bobbitt’s case, the bulk of his medical treatments were covered under his father’s insurance. However, that is not always the case. “BMT is an expensive procedure and process,” Osunkwo said. She added, “We pick eligible subjects based on several criteria, including ability to comply with therapy.”
Another resource for patients is the Sickle Cell Treatment Act of 2003. Among other things, the law mandates federal funding for the treatment of people living with the disease.
Not Just a Black Thing
While the majority of people afflicted with SCA are African-American, other races have been known to have the disease. Studies from the Sickle Cell Disease Association of America reveal that caucasians and Latinos also get SCA. Estimates vary, however, about the rates thereof. According to various statistics, including those from the CDC, about 1 in 60,000 to 100,000 children are born with the disease.
“There are numerous other gene mutations that are found in non-African populations that, in compound heterozygote states with sickle cell traits, lead to sickle cell disease,” Osunkwo said.
Some medical experts contend that people who lived along the Mediterranean were exposed to malaria. “The sickle shape of the cell was the body’s way of adapting and making it more difficult for the malaria to attack the body,” said Kenner.
A cure for SCA may still be several years away, but researchers and physicians contend that gene replacement therapy appears to be one of the most effective treatments for the disease. “We are still many years away from fully administering a clinical application of this treatment,” Osunkwo concluded.