Sickle cell disease (SCD) is an inherited blood disorder that affects the red blood cells. It is inherited from both parents and can affect both males and females. Among African Americans in the United States, 1 in 10 persons are carriers of the sickle gene and 1 in 400 has sickle cell disease. Because the symptoms of SCD vary from person to person, no two children with SCD will necessarily have the same problems or the same intensity of a problem.
The science behind the disease: Red blood cells carry oxygen from the lungs to all parts of the body. Red blood cells travel in arteries and veins (blood vessels). Our bodies need oxygen for every function: eating, walking, even sleeping requires oxygen. Normal red blood cells are soft and round and can squeeze through blood vessels. Normal red blood cells live for about 120 days before new ones are made by the body to replace them. People with sickle cell disease have red blood cells that are crescent shaped (sickle-shaped) and are stickier. These sickle red blood cells get stuck in the small blood vessels in the body. In addition, these sickle red blood cells do not live as long as normal red blood cells (only about 16 days). As a result, people with sickle cell disease are anemic meaning they have less blood in their bodies than people without SCD.
Sickle cell disease is an inherited genetic condition, which means you get it from your mother or father. You get the disease based on your parents hemoglobin. Hemoglobin is the main substance of the red blood cell. It is the protein that carries oxygen around in the red blood cells. Normal red blood cells contain hemoglobin A. People with sickle cell disease have abnormal hemoglobin called hemoglobin S and/or hemoglobin C. Therefore, in order to get sickle cell disease, one parent has to have hemoglobin S and/or C, and the other parent has to have hemoglobin S and/or C. It is this abnormal hemoglobin S or C that causes the red blood cells to have the sickle shape and get stuck in the blood vessels. When sickle-shaped red blood cells get stuck in blood vessels, less blood reaches that part of the body. The part of the body that does not receive normal blood flow can have pain or be damaged. This decrease in blood flow is what causes the complications of sickle cell disease.
It is very important for people with sickle cell disease to be seen by a trained hematologist (blood doctor) in a comprehensive setting. People with sickle cell disease need to be followed very closely for complications in all of their organs. They should have heart exams, kidney exams, eye exams, and transcranial doppler studies (that measure blood flow in the brain) regularly to prevent complications from sickle cell disease.
Currently, Hydroxyurea is the only medication available to persons with sickle cell disease that can improve overall outcomes and prolong life. The only available cure for sickle cell disease is bone marrow transplant. However, not all persons with sickle cell disease are able to undergo bone marrow transplant. You should contact your physician to see if you are eligible for this procedure.
A pain crisis occurs when sickled red blood cells block blood flow to the limbs and organs. This can cause pain and organ damage. The pain can be acute or chronic, but acute pain is more common. Acute pain is sudden and can range from mild to very severe. The pain usually lasts from hours to as long as a week or more. Many people also have chronic pain, especially in their bones. Chronic pain often lasts for weeks or months and can be hard to bear and mentally draining. Chronic pain may limit your daily activities.
Almost all people who have sickle cell have painful crises at some point in their lives. Some have these crises less than once a year. Others may have crises once a month or more. Repeated crises can damage the bones, kidneys, lungs, eyes, heart, and liver. This type of damage happens more often in adults than in children.
Many factors can play a role in sickle cell crises. Often, more than one factor is involved and the exact cause isn't known. You can control some factors. For example, the risk of a sickle cell crisis increases if you're dehydrated (your body doesn't have enough fluids). Drinking plenty of fluids can lower the risk of a painful crisis. You can't control other factors, such as infections.
Painful crises are the leading cause of emergency room visits and hospital stays for people who have sickle cell disease.
Acute chest syndrome is a life-threatening condition linked to sickle cell disease. This syndrome is similar to pneumonia. An infection or sickle cells trapped in the lungs can cause acute chest syndrome. People who have this condition often have chest pain, shortness of breath, and fever. They also often have low oxygen levels and abnormal chest x ray results.