Sickle cell anemia is a genetic disease of the red blood cells. The protein hemoglobin, which makes up red blood cells and is responsible for carrying oxygen from the lungs to the tissues, contains an error in patients with sickle cell anemia. This results in the protein being misshapen, which in turn leads to misshapen red blood cells. These cells, which are sickle-shaped instead of biconcave, can agglutinate and get stuck in blood vessels, leading to pain and organ damage. While it’s not possible to tell whether a person has sickle cell anemia from outward appearance, there are a number of traits symptomatic of the disease.
Anemia-related Traits
According to the National Heart Lung and Blood Institute, or NHLBI, common sickle cell traits include those related to anemia, or a lack of functional red blood cells. Since the red blood cells have the task of transporting oxygen from the lungs to the tissues, anemia results in symptoms of low cellular oxygen, including shortness of breath, dizziness, fatigue and cold extremities. Blood transfusions help to alleviate the symptoms of anemia by providing fresh, functional red blood cells. Since these cells live a maximum of about four months, treatments must be repeated often.
Pain
As sickle-shaped cells agglutinate and clog small blood vessels, they block the delivery of oxygen and nutrients to cells, leading to areas of cell distress and even death. This can cause severe pain. MayoClinic.com notes that pain is most common in the chest, joints, bones and abdomen, and that it can vary in intensity and duration. Severe episodes often require hospitalization and physicians typically prescribe intravenous pain medication to ease symptoms.
Organ Damage
When blood vessels become blocked by sickle-shaped cells, organ damage or failure can ensue. Traits of sickle cell patients reflecting this organ damage includes a yellowing of the skin or eyes, indicative of liver damage, according to the American Sickle Cell Anemia Association. The retina, involved in sensing light and allowing for vision, is also easily damaged, and sickle cell patients may have difficulty seeing. Growth is often delayed, meaning that patients may appear small in stature or immature for their age. Finally, the immune system fails to function optimally, resulting in susceptibility to infections.
Risk of Stroke
The American Sickle Cell Anemia Association also notes that the tendency of sickle-shaped cells to agglutinate puts patients at risk for stroke. A stroke is the result of a clot of blood cells forming in a vessel, then breaking off and traveling through the vessel until it gets stuck. If the clot happens to get stuck in a brain vessel, it prevents blood flow to the brain, and causes brain cell death. This can result in symptoms including loss of consciousness, loss of memory and difficulty moving.
