Millions of Americans have a condition called anemia in which they either don’t produce enough red blood cells or their red blood cells don’t function properly. The lack of properly functioning red blood cells leads to a lack of oxygen flow throughout the body, including to vital organs.
Anemia is very common, and there are multiple types of anemia. It can be brought on by the body’s inability to absorb vitamin B12, it can be an autoimmune condition like pernicious anemia, or it can be inherited. Sickle cell anemia, or sickle cell disease, affects millions of people worldwide and is estimated to affect around 100,000 Americans.
What Is Sickle Cell Anemia?
People with sickle cell anemia, or sickle cell disease, produce red blood cells like everyone else. Their red blood cells, however, do not function properly. Instead of normal, healthy, round red blood cells, their red blood cells are misshapen and take the form of a sickle, or crescent moon. Healthy red blood cells are flexible and flow throughout the body, easily carrying oxygen through blood vessels to organs and tissue. Sickle cells, however, cannot move so easily and often get stuck inside blood vessels and cause blockages. These blockages prevent blood and oxygen from getting to various parts of the body.
What Causes Sickle Cell Anemia?
Sickle cell anemia is an inherited disease. According to the Centers for Disease Control and Prevention (CDC), someone with sickle cell anemia inherited a gene called a sickle cell trait from his or her parents. Individuals who inherit the gene from only one parent may have sickle cell trait but usually do not develop sickle cell anemia. Individuals who inherit the gene from both parents have a greater risk of developing sickle cell anemia. Even if someone has inherited sickle cell trait but never develops sickle cell anemia, he or she can still pass the trait onto his or her own children. People who are unsure if they carry the sickle cell gene can ask their physician to test them for it before having children of their own.
Sickle Cell Crisis
While it is common for sickle cell patients to experience episodes of pain, sometimes the pain becomes so severe that it is considered a sickle cell crisis. A sickle cell crisis occurs when the sickle-shaped red blood cells can’t pass through blood vessels and end up creating a blockage. The blockage cuts off the flow of blood and oxygen to part of the body, creating a painful episode that can last from hours to days. Some episodes can be treated with pain medication while others may be severe enough to warrant a trip to the emergency room.
Common sickle cell crisis symptoms include:
- Pain in the:
- Pain that is:
- Extreme fatigue
Certain factors are thought to trigger a sickle cell crisis, such as dehydration. The CDC recommends sickle cell patients take the following precautions to help prevent a sickle cell crisis:
- Drink plenty of fluids
- Stay at a comfortable temperature, don’t let yourself get too hot or too cold
- Avoid high altitudes such as flying or mountain climbing
- Avoid low oxygen exposure such as mountain climbing or intense exercise
Diagnosing Sickle Cell Anemia
According to the Mayo Clinic, all babies born in a United States hospital are automatically tested for the inherited sickle cell gene as part of a newborn health screening. If the test is negative, then it is determined that the baby is not at risk for sickle cell anemia. If the test is positive, then further testing can be done to determine if the baby inherited two sickle cell genes, one from each parent, and the likelihood of developing sickle cell anemia.
If older children, teens, or adults were not tested as newborns and would like to be tested, a simple blood draw will determine if they have the sickle cell gene and if so, how many. If the results are positive, then the physician will likely refer the patient to a genetic counselor knowledgeable about sickle cell anemia, the chances of developing it, and the likelihood of passing it on to the patient’s children.
Treating Sickle Cell Anemia
Sickle cell anemia treatment takes many forms. Often the treatment depends on the age of the patient. Common treatments include medications, vaccinations, blood transfusions, and bone marrow transplants.
A variety of medications may be used to treat sickle cell anemia patients. These include:
- Antibiotics: Children with sickle cell anemia are at a greater risk of life-threatening infections and may be prescribed antibiotics for the first few years of life.
- Pain relievers: Physicians may prescribe pain relievers to help alleviate the painful episodes associated with sickle cell anemia.
- Hydroxyurea (Droxia, Hydrea): This drug helps prevent the formation of sickle cells in newborns, reduces painful episodes, and may reduce the need for blood transfusions.
Those with sickle cell anemia, particularly children, have a higher risk of severe bacterial and viral infections. In addition to the recommended vaccinations for newborns and children, additional vaccines may be recommended for children and adults with sickle cell anemia. These may include the pneumonia vaccine and an annual flu shot.
A blood transfusion is sometimes used to help relieve symptoms for sufferers of sickle cell anemia. A blood transfusion is when someone with sickle cell anemia receives blood from someone with healthy red blood cells. This increases the amount of healthy red blood cells in the sickle cell patient and helps relieve their symptoms by increasing blood and oxygen flow throughout the body. However, in addition to increasing the number of red blood cells, the level of iron in the sickle cell patient’s blood may also increase. Excess iron in the blood can be damaging to organs. Sometimes treatment to reduce iron levels may be necessary to keep the sickle cell patient at a healthy iron level.
Bone Marrow Transplants
A bone marrow transplant is sometimes recommended for those who have severe symptoms of sickle cell anemia. The sickle cell patient will first undergo radiation or chemotherapy to destroy bone marrow stem cells. Next, healthy stem cells are injected into the patient’s bloodstream to replace the bone marrow that has been damaged. Once in the bloodstream, the healthy stem cells should begin making new blood cells. Before a patient can have a bone marrow transplant, a donor must be found who does not have sickle cell anemia. Siblings are often a match.
In 2017, the American Journal of Healthy-System Pharmacy reported that the FDA approved the amino acid L-glutamine for the treatment of sickle cell anemia in patients five years and older. Amino acids are essentially the building blocks of a healthy body. They help the body form protein and make chemicals that are critical to healthy organ function, including brain function.
The FDA approved L-glutamine after a study showed that patients being treated with this amino acid experienced fewer episodes of sickle cell pain and had fewer hospitalizations than those treated with placebo. Although L-glutamine has been shown to have positive effects for some sickle cell anemia patients, it’s best to take a balanced mixture of all essential amino acids to make sure that the blood concentration of amino acids is optimal. Patients thinking of using amino acids should consult their physician first, especially if there is an underlying condition like sickle cell anemia present.