Living with sickle cell anemia is challenging. Some days are better than others, but there are also days when a person with sickle cell anemia experiences excruciating pain due to blocked blood flow or extreme fatigue that affects their ability to complete daily tasks.
Despite the difficulties of living with sickle cell anemia, there are steps individuals can take to maintain their quality of life. We interviewed Oncology Nurse Practitioner Ludmila Kosmari to better understand the condition and learn how patients can still live their lives to the fullest.
What is sickle cell anemia and who is affected by it?
Sickle cell anemia is a genetic blood disorder that affects the structure of red blood cells. In individuals who do not have sickle cell anemia, the red blood cell is round and can easily pass through tiny blood vessels such as capillaries. They can be compared to a donut in shape. However, according to the Mayo Clinic, some blood cells are shaped like sickles or crescent moons in individuals living with sickle cell anemia.
These abnormal cells can be rigid and sticky, slowing or blocking the flow of blood. This often leads to complications as the cells can clump together and have difficulty moving through tight spaces. About 90 percent of those affected by sickle cell anemia are African American, and around 9 to 10 percent are Hispanic.
What are complications of sickle cell anemia?
Individuals who have the most severe form of sickle cell anemia are at the highest risk of experiencing a variety of complications. The symptoms can range from things that can be an inconvenience to patients to life-threatening symptoms. Some risks include:
- Risks of Infection: Individuals with sickle cell anemia must stay on top of their immunizations, especially during seasons when germs are prevalent. They should take extra measures to protect themselves, such as avoiding large crowds, washing their hands frequently, and wearing masks if necessary.
- Joint Pain: Sickle cell anemia can cause pain in the elbows, shoulders, hips, and knees, which can interfere with daily activities. Children may not be able to participate in sports, and adults may experience social isolation due to the pain. Therefore, pain management is crucial for sickle cell anemia patients.
- Strokes: Sickle-shaped red blood cells can block the flow of blood to the brain, increasing the risk of strokes.
- Kidney Failure: Sickle cell anemia can block the blood flow in the kidneys, leading to kidney failure.
- Major Organ Dysfunction: The irregularly shaped blood cells can disrupt the flow of blood, depriving organs of essential blood and oxygen.
- Fatigue: Since the hemoglobin is consistently low, the red blood cells struggle to transport enough oxygen, resulting in tiredness.
What causes sickle cell anemia?
According to the National Human Genome Research Institute, sickle cell anemia is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11, which transports oxygen from the lungs to other parts of the body. It is inherited when a child receives two sickle cell genes, one from each parent. Since sickle cell is a genetic mutation, the genetic information is received from the parents of the individuals with sickle cell. For example, Kosmari explained it as the "recipe" individuals have in their body, not having all the right "ingredients" and not being in the right order. So, when it's time for the body to make red blood cells, it doesn't make healthy ones.
Is sickle cell anemia curable, if not, how is it treated?
Sickle cell anemia is treated through various methods, including:
- Pain medication
- Blood transfusions
- Vaccinations
- Drinking plenty of water
Additionally, a bone marrow (stem cell) transplant is an option that can cure the disease if successful. However, this option comes with significant risks. JPS Health Network does not perform transplant procedures, but they can refer a patient to a facility that does. The process for determining if a patient is a suitable candidate for a transplant involves:
- Reviewing the patient's medical history
- Considering the cost and insurance
- Finding a matching donor
While this is an option, only a small percentage of individuals have undergone this procedure, which is not considered a standard of care.
If two individuals are sickle cell anemia carriers, does that mean they shouldn’t have children? What are the chances their children will have sickle cell anemia?
A carrier of sickle cell anemia is an individual who carries a single gene for the disease. When two individuals find out they are carriers, they should seek the help of a genetics professional. The professional can map out their family pedigree and assess their risk of having a child with sickle cell anemia. If both parents are carriers, there is a 25 percent chance with each pregnancy that their child will have the disease. However, this does not mean that they should not have children. It is important to consult with a doctor to assess the situation and determine the best course of action.
Can being a carrier have an effect on you?
Being a carrier of the sickle cell trait typically does not cause health problems, but in rare cases, carriers may experience mild joint pain or develop arthritis.
What should Individuals do to maintain a great quality of life while dealing with sickle cell anemia?
Patients are always advised to adhere to their medication schedule and prioritize infection prevention. Remember to take folic acid, stay hydrated, and take pain medication as necessary.
Maintaining a healthy lifestyle is essential for everyone, especially individuals living with sickle cell anemia, as most pain occurs in the joints. Keeping a healthy weight is crucial to avoid worsening crises.
If you have acute symptoms, seek immediate care at the emergency room. Timely treatment is critical for a positive outcome.
Despite the challenges posed by this diagnosis, individuals can still enjoy a good quality of life. Kosmari recommends patients seek support groups to avoid feelings of social isolation, as connecting with others facing similar challenges can be invaluable.
Regularly visit your primary care physician and keep them informed about all aspects of your health, including your mental well-being. Remember, they are here to support you!