Sickle cell disease is the most commonly inherited blood disorder in the U.S. It is an extremely painful and lifelong condition that affects approximately 100,000 people in the U.S. and 20 million people worldwide. Without proper treatment, sickle cell disease can be life-threatening. However, treatments are available to allow people born with sickle cell disease to live full lives.
In the U.S., instances of sickle cell disease are highest among Blacks and African Americans, affecting 1 in 365 Black or African American births. Additionally, 1 in 13 Black or African American babies in the U.S. are born with the sickle cell trait, meaning they have inherited one gene for sickle cell disease that they could pass on to their children.
Millions of people across the world are affected by sickle cell disease. It also affects people who come from and whose ancestors come from certain parts of the world, including sub-Saharan Africa, South Asia (including India), southern Europe (including Greece and Italy) and the Middle East (including Saudi Arabia and Lebanon).
What is sickle cell disease?
Sickle cell disease is caused by a change in hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Individuals with sickle cell disease have defected hemoglobin that causes red blood cells to turn into rigid, sticky strands that look like a C-shaped farm tool called a “sickle.”
These sickle cells die early, and block blood flow to the point that tissues become deprived of oxygen. This results in an inflammatory response as the body tries to rectify the problem: causing pain, anemia and infection. Pain can become so severe it is difficult to manage at home.
Doctors diagnose sickle cell disease using different screening blood tests, including a genetic blood test, so individuals can learn whether they carry a gene for sickle hemoglobin that could be passed onto their children.
Health care providers can also provide prenatal and newborn screenings to test hemoglobin. Having a family history of sickle cell disease increases risk for the disease: a child gets sickle cell disease when they receive two sickle cell genes – one from each parent.
Treatment options and prognosis
Sickle cell disease is a lifelong illness that is best managed under the care of a health care provider.
Certain pain medications can help ease the symptoms of sickle cell disease, which can include yellowing of the skin, fatigue or fussiness from anemia and painful swelling of the hands and feet. In some situations, blood transfusions may work better to manage complications like chronic pain.
Bone marrow transplants are the only cure for sickle cell disease, but they carry some risk and may not be the best choice for every patient. After early diagnosis, some doctors may recommend medicines or transfusions to manage complications, including chronic pain.
The historic role of implicit bias in sickle cell disease treatment
Historically, many patients with sickle cell disease who are Black and African American have had their pain and suffering diminished by care providers. Provider biases – whether conscious or unconscious – have influenced treatment decisions in those living with sickle cell disease. As a result, some patients did not receive the care they needed, leading to a decreased quality of life and a shortened life span.
Implicit bias is not just a thing of the past: A systematic review of peer-reviewed studies between March 2003 and March 2013 showed that health care professionals exhibit implicit biases to a similar degree as the general population, sometimes resulting in adverse treatment and diagnosis-related impact. A 2017 BMC Medical Ethics study showed that for Black patients, poor communication and poor ratings of care were associated with clinicians' implicit race bias and race/compliance stereotyping.
Experiences with discrimination have caused medical mistrust among many patients with sickle cell disease, only furthering this cycle. An equal standard of care should be provided to every patient, regardless of their race, age or gender.
Condition management transition from childhood to adulthood
Children with sickle cell disease can live a long, healthy life when under the care of a health care provider. As they grow up, it’s important to continue annual physicals, follow treatment plans as prescribed – including taking medications, preventing infections and living a healthy lifestyle by eating a balanced diet and staying hydrated.
As teenagers transition to adulthood, they will have to pick up the responsibility of managing their health, including scheduling doctor’s appointments and following treatment schedules. These tips can help ensure a smooth transition:
- Do the research necessary to find a doctor that has knowledge of sickle cell disease. Try reaching out to local sickle cell disease organizations for help finding a doctor trained to treat sickle cell disease.
- Keep medical records that include family history and personal health history to give to new providers and specialists, especially those that may be less familiar with sickle cell disease.
- Join a support group for young people with sickle cell disease going through transition. Connecting with people with shared experiences can help boost everyone’s mental state and attitude.
- Learn about health insurance options and how eligibility may change with age. These changes can affect access to health care services, treatment options and more.
- Sickle cell disease does not have to be debilitating. By being prepared with resources, knowledge and avenues of support, individuals with sickle cell disease can manage their condition and lead full, fruitful lives.
Photo credit: Getty Images
Gina Lynem-Walker, M.D., is an associate medical director at Blue Cross Blue Shield of Michigan. For more health news and information, visit MIBluesPerspectives.com.