by TERESA SCHIFFER
Sponsored by Central Florida Health Care
Sickle cell disease may be a familiar phrase to many, but most people are still unfamiliar with the condition.
“Sickle cell disease is a group of inherited disorders of the red blood cells,” says Dr. Cara Nelson-James of Central Florida Health Care. “It affects close to 100,000 Americans, and it largely affects people of African descent. You’ll find that both in Africa and in people of African descent in the United States or in South America or even parts of Europe. It’s carried by a gene that affects the hemoglobin.”
Hemoglobin is the vehicle for oxygen within the blood. When the hemoglobin is compromised, it impairs the body’s ability to deliver vital oxygen to various tissues and organs. This can result in a multitude of serious health issues, including severe pain.
The most serious form of sickle cell disease is HbSS, also known as “sickle cell anemia.” This occurs when the patient has inherited two copies of the sickle cell gene, one from each parent. When this is the case, the individual’s red blood cells become rigid and sickle-shaped, thereby causing blockages in the small blood vessels.
“The hallmark of this disease is pain because small blood vessels get blocked by these abnormally shaped blood cells,” Nelson-James explains. “A normal red blood cell is round and can flow freely through the blood vessels. When a patient is affected by the sickle gene, that shape changes to a ‘C’ shape, like the form of a sickle, and they don’t pass through the blood vessels freely. In the areas and organs that are affected, people end up with severe pain due to decreased oxygen to those areas.”
Because of the severity of this abnormality, all newborns in the United States are screened for this trait. However, an individual can carry one copy of the gene and be asymptomatic. For this reason, it is currently not known exactly what percentage of the population carries this gene.
Currently, the best defense against sickle cell disease is knowledge. Nelson-James encourages her patients to be screened for this trait before having children in order to assess the risk of a child inheriting the condition from asymptomatic parents who are carriers of the sickle cell gene.
“There’s no definitive cure,” explains Dr. Nelson-James. “There are a couple of medications — and new treatments are being developed every day — but treatment is mostly focused on prevention.”
She says it’s important to make sure children get the appropriate vaccinations required for sickle cell disease to prevent infection because a baby with sickle cell disease can’t fight infection as well as a healthy baby.
In addition, Nelson-James says hydration is really essential, as is good management. There are a couple of treatments that help maintain the shape of the cells, the main one being hydroxyurea.
Managing the disorder is imperative because the only treatments currently known that are effective at actually treating sickle cell anemia carry significant risks and challenges.
“The only known cure right now for sickle cell disease is a bone marrow transplant or stem cells,” Nelson-James elaborates. “Those treatments are really dangerous, and, of course, there is the challenge of not having enough donor matches.”
Access to treatment can also be an obstacle for patients who suffer from a severe form of sickle cell disease, especially if they live in a rural or otherwise underserved area.
Central Florida Health Care and its doctors are a valuable resource for those wanting to learn more about or seek treatment for the disease.
