Sickle Cell Disease

By Tim Taylor

Rigid and sticky

Sickle cell disease, a genetic disorder that affects nearly 100,000 Americans, was first identified in 1910 when Chicago cardiologist Dr. James Herrick treated a patient suffering from what appeared to be anemia. Herrick wrote in a journal article that the patient’s red blood cells were “sickle shaped.” September is National Sickle Cell Awareness Month, a time to remind us of the importance of screening for this disorder. It is most common among blacks although it can be found in other ethnic or racial groups. In a healthy individual, red blood cells are flexible and round. When someone has sickle cell disease, the red blood cells become rigid and sticky, often shaped like sickles or crescent moons. They don’t move well through the smallest blood vessels. This can slow blood flow to parts of the body, causing less oxygen to reach these areas. The sickle cells also die earlier than normal blood cells, which can cause a shortage of red blood cells in the body.

Mutation in gene

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Sickle cell disease is caused by a mutation in the gene that tells your body to make hemoglobin, the red, iron-rich compound that gives blood its red color. Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. Unlike sickle cell disease, a person with the sickle cell trait carries only one defective gene. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. People with the sickle cell trait usually do not have any of the symptoms of the disease and live a normal life. But, under extreme conditions such as high altitude, severe dehydration, or very high intensity physical activity, red cells can become deformed or sickled.

Pain crisis

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Although sickle cell disease is usually diagnosed at birth, Dr. Megan Davis of UAMS’ Adult Sickle Cell Clinical Program says you should seek medical care immediately if you or your child develop certain problems. These can range from unexplained episodes of severe pain and swelling in the hands and feet to pale skin or a yellow tint to the skin or whites of the eyes. Sickle cells can get stuck in blood vessels and keep blood from reaching parts of the body. This causes pain and can damage the body’s internal organs. Blocked blood vessels in the arms, legs, chest or abdomen can cause strong pain. Children who have sickle cell disease might get more infections because their spleen is damaged by sickle cells. One of the spleen’s main jobs is to protect against infection, according to Dr. Davis. When sickle cells block blood flow to organs and cause moderate to severe pain and other problems, this is called a “sickle cell” or a “pain” crisis.

Damage to retinas

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The pain commonly associated with sickle cell disease is just one of the problems this disorder can cause. A stroke can occur if sickle cells block blood flow to an area of the brain. The sudden signs of stroke include facial weakness, drooping or uneven smile, arm numbness or weakness, slurred speech, difficulty speaking. If signs of stroke, call 911 and get to the hospital immediately. People with sickle cell disease can also develop high blood pressure in their lungs. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal. Sickle cells can block blood flow through blood vessels, immediately depriving an organ of blood and oxygen. In sickle cell disease, blood is also chronically low on oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen. The tiny blood vessels that supply your eyes can get blocked by sickle cells. Over time, this can damage the retinas, which process visual images, and lead to blindness.

Talk about the risks

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Certain treatments can help relieve sickle cell disease’s symptoms and treat its complications. The goals of treating the disease are to relieve pain, prevent infections, organ damage and strokes and control complications if they occur. If the pain continues or becomes severe, stronger medicines called opioids may be necessary. A patient with sickle cell disease should talk with their physician about the risks of taking such medications, especially if the medicine will be used for a long period of time. If you have sickle cell disease or you want to learn more about the illness, you may want to attend the upcoming Sickle Cell Symposium, scheduled to be held Thursday, October 19th, at the Jack Stephens Spine and Neurosciences Institute at UAMS in Little Rock. The event is free to the public, with continuing education credit available to medical professionals. Registration starts at 5:30 p.m. To find out more about this event, visit

Trusted by thousands of listeners every week, T. Glenn Pait, M.D., began offering expert advice as the host of UAMS’ “Here’s to Your Health” program in 1996. Dr. Pait began working at UAMS in 1994 and has been practicing medicine for over 20 years.