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Sickle Cell Disease
What is Sickle Cell Disease? Sickle cell disease is an inherited blood disorder that affects a special protein inside the red blood cells called hemoglobin. Red blood cells have an important job. They pick up oxygen from the lungs and take it to every part of the body. It is the hemoglobin in the red blood cells that actually carries the oxygen to all parts of the body. 
A person with sickle cell disease makes a different kind of hemoglobin called hemoglobin S
(S stands for sickle), or there may be hemoglobin S and another type of hemoglobin (C, D, E, or beta thalassemia). These hemoglobins cause the red blood cells to change their shape. Instead of being smooth and round, the cells become hard and sticky.
Their shape looks like a banana or like a sickle,
a hand tool used to cut wheat or tall grass.
It is this sickle shape of the red blood cells that gives "sickle cell" disease its name.
The hard, sticky sickle red blood cells have trouble moving through small blood vessels. Sometimes they clog up these blood vessels so that blood cannot bring oxygen to the tissues. This can cause pain and/or damage to these areas. Types of Sickle Cell Disease There are several types of sickle cell disease. The two most common types are sickle cell anemia (Hb SS) and sickle-hemoglobin C disease (Hb SC). Sickle beta thalassemia disease (Hb Sthal) is another type, but is less common. Some types of sickle cell disease cause fewer problems than others. For example, SC disease is often less serious than SS disease. The effects of sickle cell disease vary greatly from one person to the next. Medical Problems The most common problems a person may have because of sickle cell disease include the following: Infections. Infants and young children with sickle cell disease are especially vulnerable to serious bacterial infections, such as those that cause meningitis (infection of the lining of the brain) and blood infection. Pain episodes. Pain episodes occur when sickle cells clog small blood vessels depriving the body of adequate blood and oxygen. Pain frequently occurs in the arms, legs, chest, and abdomen. People with sickle cell disease are not affected equally by pain. Only 20 percent will have frequent pain episodes. Acute chest syndrome (lung tissue damage). This is similar to pneumonia, with symptoms such as difficulty breathing, chest pain, and fever. It can be caused by an infection or by blocked blood vessels in the lung. Anemia (low blood). There are times when a child's blood count may fall much lower than usual. This can happen with a fever or infection. Either the body stops making new cells or the cells are destroyed quicker than usual. When this happens, the destroyed red blood cells in the body fluids can make the eyes look more yellow and the urine look darker than usual. Problems with the spleen. In some children, the spleen may become larger very quickly and begin to trap lots of blood cells. This "bleeding into the spleen" can cause the blood count to drop quickly. This can lead to heart failure and death if not treated promptly with a blood transfusion. Rapid spleen enlargement with dropping blood count is known as a "splenic sequestration crisis." Problems with kidneys and urine. The kidneys help the body retain fluid. In sickle cell disease, the sickle cells damage the kidneys so that even young children have trouble holding onto their urine. Children with sickle cell disease drink more fluids and pass urine more often than other children. When a child becomes sick and drinks less than usual or loses fluid by vomiting, diarrhea or fever, he or she can get dehydrated. Frequent urination can also cause bedwetting. This is common in most children with sickle cell disease. Bedwetting is not caused by a psychological problem. Hand-foot syndrome. Plugging of small blood vessels causes hands and feet to swell, become hot, red and painful. Hand-foot syndrome is a common symptom in young children. Jaundice. Yellowish color of the eyes. Although jaundice is usually not painful, it is a signal of an abnormal blood condition. It is caused by coloring material from red blood cell breakdown. Leg ulcer. A breakage in the skin that begins as a small sore on the lower leg - above, over and around the ankle. It can be caused by injury and decreased blood flow. Gallstones. About a third of children with sickle cell disease have gallstones by the age of seven. Gallstones are formed from the waste products of broken down red blood cells. These cells collect in the gallbladder and form thick sludge or stones. Gallstones are not harmful. But if they get stuck in the gallbladder duct, they can cause a serious infection. Strokes. Strokes are a very serious but fairly rare problem caused by sickle cell disease. They are caused by sickle cells blocking blood vessels in the brain. They happen to less than 1 in 20 children who have SS disease and even fewer children who have SC disease and S beta thal disease. A stroke can lead to lasting disabilities, including learning problems. Priapism. Priapism is a serious problem of sickle cell disease in boys that can occur if sickle cells block the blood vessels in the penis. When this happens, the penis becomes erect, hard and painful. This problem can occur at any age. Delayed growth. Most children with sickle cell disease grow normally when they are young babies. After their first birthday, they may start to grow more slowly. Throughout the rest of their childhood, some children with sickle cell disease are shorter and thinner than other children their age. Their height and weight is more like that of children several years younger. Puberty can also be delayed due to this slow growth. In almost all cases, this difference in size is only temporary. Children with sickle cell disease keep growing after their friends have stopped. After a while, they will reach the height that would be expected from the size of their parents. Not everyone who has sickle cell disease will have all of these problems. In fact, many people with sickle cell disease feel well most of the time. However, most people with sickle cell disease will have to deal with these problems during their lives. Treatment for Sickle Cell Disease Babies with certain types of sickle cell disease are treated with penicillin every day and get special immunizations (shots) to help prevent infections. Parents work closely with their child's doctor, the children's blood specialist (hematologist) and the sickle cell clinic. They learn how to care for their baby and recognize when to take the baby to the doctor to treat problems early. Good nutrition and extra fluids are very important. Sometimes hospitalization is needed for treatment with IV (medicine given through a thin tube into a vein) antibiotics and fluids. There are other treatments for sickle cell disease such as chronic red blood cell transfusions, hydroxyurea, and bone marrow transplant. Chronic red blood cell transfusions are used as a treatment for various complications of sickle cell disease. Transfusions are the major treatment for cerebrovascular accidents (stroke) in children with sickle cell disease. With chronic transfusions, blood is given every three to four weeks. Complications of chronic red blood cell transfusions include iron overload, infection, antibody formation, and transfusion reactions. Hydroxyurea is a medication that has been shown to help adults and children with sickle cell disease. Research studies have shown that hydroxyurea decreases pain crises, episodes of acute chest syndrome (pneumonia), blood transfusions and hospital admissions. Bone marrow transplant currently is the only cure for sickle cell disease. The procedure works because healthy bone marrow from the donor enables the patient's body to manufacture normal red blood cells, instead of rigid "sickle-shaped" cells. But only a small percentage of patients are candidates for transplant because it is difficult to find a suitable donor, who must be a perfect bone marrow match and free of sickle cell disease. General information from our site is referenced from the following sources: 1. Earles, Ann, Marsha Gad, Deborah Hurst, Klara Kleman, Shellye Lessing, Susan Fortune Pinheiro, Joseph Telfair, and Elliott Vichinsky. A Parents' Handbook for Sickle Cell Disease. 1990. 1-45. California Department of Health Services, Genetic Disease Branch; Revised 1998. 2. The Pediatric Hematology Center of Memphis, St. Jude Children's Research Hospital. 2004. Hydroxyurea Treatment for Sickle Cell Disease. 1st ed. (Brochure) Disclaimer The Taylor Delk Sickle Cell Foundation website is designed for educational purposes only and is not engaged in rendering medical advice or professional services. The information provided through this site should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. If you have or suspect you may have a health problem, you should consult your health care provider. |
