September 20, 2018

Sickle Cell Disease – What it is and the Importance of Treating it Early

By Ben Barbour, Nurse Practitioner

Millions of people throughout the world are affected by sickle cell disease (SCD) – a blood cell disease characterized by a group of inherited red blood cell disorders. According to the Centers for Disease Control and Prevention (CDC), about 1 out of 500 African American births and 1 out of 36,000 Hispanic American births are positive for SCD, and 1 out of 12 African American births are positive for sickle trait.

Early diagnosis of sickle cell disease is very important because many complications can be prevented with early diagnosis and treatment.

There are numerous different types of sickle cell disorders. The most common form results from an abnormal blood protein known as hemoglobin S (Hgb S). When exposed to certain triggers, Hgb S can modify the shape of red blood cells from its normal shape, which is a concave disc shape, to an abnormal sickle C-like shape. These abnormal blood cells can become trapped in small blood vessels throughout the body and often results in pain and impaired blood flow to various tissues and organ systems. Complications of SCD can range from sporadic pain, to severe life-threatening lung disease, renal failure and stroke.

People with SCD also have an increased risk of developing severe infections due to impaired blood flow to their spleen. Relatively simple clinical mistakes can lead to further long-term complications but with the proper monitoring and management, the risk of complications from SCD can be dramatically decreased. Medical advancements – such as universal screening, new vaccine and medication development, and hematopoietic stem cell transplant – have significantly improved the care of patients with SCD. In the United States, the average life expectancy for people with SCD has increased from approximately 14 years in the 1970s to presently between 40-60 years.

Despite these improvements, many children and adults with SCD are challenged with access to the required care and the continuity of that care to help manage their disease. Often times, the transition period for adolescents out of the pediatric unit to adult sickle cell care is more complicated, and patients need help simply navigating the continuity of care. One of our current initiatives is allowing us to focus on ensuring the proper and smooth transition during that time.

Here at Mission’s Pediatric Hematology/Oncology Clinic, we are able to provide care with the latest medical innovations and technology for children and adolescents in WNC with all forms of sickle cell disease, including counseling to individuals with sickle trait. Our goal is to empower our patients with SCD to better understand your disease and your personal medical history. With the tools, information and resources you need to engage and advocate for your healthcare needs, you can be more successful in your treatment journey going forward.

Ben Barbour, RN, BSN, MSN, FNP-BC, is a nurse practitioner at Mission Pediatric Hematology/Oncology and a member of North Carolina Sickle Cell Program.