Why does it hurt so much?
Most people know that sickle cell has something to do with blood not functioning properly. However, many people don’t know exactly what happens during a sickle cell crisis or who’s at risk for developing one. So, why does sickle cell occur? Who’s more likely to be impacted? What can be done to lessen the discomfort?
Definition
Sickle cell anemia is part of a group of disorders called sickle cell disease. These are inherited conditions. Sickle cell anemia is caused by a mutation in the gene that instructs your body to make the iron-rich compound (hemoglobin) which makes your blood red and enables it to carry oxygen. Both the mother and father must pass the defective form of the specific gene to the child. If only one parent passes the gene, that child will have the sickle cell trait, meaning they have one normal hemoglobin gene and one defective form of the gene. People with sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. While their blood might contain some sickle cells, they generally don’t have symptoms. However, they’re carriers of the disease, which means they can pass the gene to their children. In the United States, sickle cell most commonly affects Black individuals, with most people being diagnosed around five months of age.
Normally, red blood cells are flexible and round, allowing them to move easily through your blood vessels. The abnormal hemoglobin causes the red blood cells to become misshapen (they look like crescent moons or sickles). Also, they become rigid and sticky. These changes result in two problems. The first is the deformed cells break apart easily and die, leaving you with fewer blood cells than normal. Typically, red blood cells live for 120 days before they need to be replaced. With sickle cells, they die within 10 – 20 days, which leaves the person with a shortage. This means the person’s body doesn’t get enough oxygen. The second issue is that sickle cells get stuck in small blood vessels, slowing or blocking blood flow, which doesn’t allow oxygen to get to specific body parts.
Symptoms vary from person to person and can change over time. The lack of oxygen usually leads to the person feeling fatigued. The decrease in blood flow causes pain, usually in the joints, abdomen, chest, and bones. Typically, this occurs periodically and is known as a pain crisis. The intensity can vary, and episodes can last from a few hours to a few weeks. Some individuals have only a few pain crises in a year, whereas others have over a dozen. If the episode is severe, the person will need to be hospitalized so they can receive intravenous (IV) fluid and pain medicine. They also need oxygen therapy and a possible blood transfusion.
Some people with sickle cell also have chronic pain from bone and joint damage or ulcers. Swelling of the hands and feet is likely to occur because the sickle cells block blood flow, causing fluid to back up. Since the sickle cells damage the person’s spleen, they’re more vulnerable to frequent infections. The tiny blood vessels in the person’s eyes can become clogged by the sickle cells, damaging their retina, and leading to vision problems. The lack of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
Sickle cell can cause a variety of complications. Most of them are related to the blockage of blood flow, such as a stroke, acute chest syndrome (lack of blood going to the vessels in your lungs), organ damage, blindness, priapism (painful, long-lasting erection), and pregnancy complications. These individuals are also more likely to experience pulmonary hypertension (high blood pressure in your lungs), leg ulcers, and gallstones (from the breakdown of the red blood cells causing high bilirubin levels, which causes gallstones).
Treatment
Treating sickle cell aims to avoid pain episodes, relieve symptoms, and prevent complications. The most common way to do this is with medications. Your doctor might prescribe narcotics to help get rid of the pain during a sickle cell crisis. Hydroxyurea is taken daily to reduce the frequency of painful crises and reduce the need for blood transfusions and hospitalizations. However, it can increase your risk of infections. Also, don’t take it if you’re pregnant. L-glutamine oral powder helps in reducing the frequency of pain crises. Crizanlizumab is given intravenously to decrease the frequency of pain crises. Voxelotor is used to improve anemia in people with sickle cell disease.
Another option to treat sickle cell anemia is blood transfusions. During the process, healthy red blood cells from a supply of donated blood are given through a vein to a person with sickle cell anemia. This increases the number of normal red blood cells, lessening symptoms and complications. A potential side effect is an excess iron buildup in your body, damaging your heart, liver, and other organs. So, if you undergo regular transfusions, you might need treatment to lower iron levels.
Stem cell transplant (or bone marrow transplant) involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The donor usually has to be matched to reduce the likelihood of complications, such as a sibling who doesn’t have sickle cell anemia. There are many risks associated with bone marrow transplants, so it’s recommended only for people, usually children, who have significant symptoms and complications. The procedure requires a hospital stay. After the transplant, the person will receive drugs to help prevent the rejection of the donated stem cells. Even with this, their body might reject the transplant, leading to life-threatening complications.
You can do things at home to help avoid complications of sickle cell anemia. It’s important to take folic acid supplements daily and choose a healthy diet because bone marrow needs folic acid and other vitamins to make new red blood cells. Also, eat a variety of fruits, vegetables, and whole grains. Be sure to drink plenty of water since dehydration can increase your risk of a sickle cell crisis. Aim for about eight glasses a day and if you’re exercising or in a hot, dry climate, increase the amount of water you drink. Try to avoid temperature extremes since exposure to extreme heat or cold can increase your chances of a sickle cell crisis. You want to get regular exercise without overdoing it. Don’t smoke, or quit if you do, because it increases your risk of having a pain crisis. Be cautious with over-the-counter pain medications, like ibuprofen (Advil, Motrin IB, Children’s Motrin) or naproxen sodium (Aleve), because long-term use or high amounts can negatively impact your kidneys. Explore other ways to cope with the pain, like heating pads, hot baths, massages, or physical therapy. Find someone, such as a family member, friend, or therapist, to talk to about how you’re feeling.
Prevention
To prevent sickle cell disorders, it’s vital to speak to a genetic counselor before having children if you have a family history of the condition. They will go over possible testing, treatment, preventive measures, and reproductive options. For those with sickle cell disorder, it’s vital to prevent infections. Children might receive penicillin between the ages of about two months old until at least age 5. Adults may need to take penicillin throughout their lives, especially if they’ve had pneumonia or surgery to remove the spleen. It’s also vital that children receive all their childhood vaccinations, as well pneumonia, meningitis, and annual flu vaccines. Staying current with vaccines is also essential for adults.
Sickle cell disorder can have a significant impact on your life. However, there are steps you can take to reduce its effects. If you have any questions or concerns about sickle cell, please speak with your doctor. If you would like more information, please visit the Centers for Disease Control and Prevention’s (CDC) Sickle Cell Disease page at https://www.cdc.gov/ncbddd/sicklecell/index.html