Fact Sheet on Sickle Cell Disease What is Sickle Cell Disease? Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin* S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease. Hemoglobin is the main substance of the red blood cell. It helps red blood cells carry oxygen from the air in our lungs to all parts of the body. Normal red blood cells contain hemoglobin A. Hemoglobin S and hemoglobin C are abnormal types of hemoglobin. Normal red blood cells are soft and round and can squeeze through tiny blood tubes (vessels). Normally, red blood cells live for about 120 days before new ones replace them. Types of Sickle Cell Disease There are several types of sickle cell disease. The most common are: Sickle Cell Anemia (SS), Sickle- Hemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. What is Sickle Cell Trait? Sickle Cell trait (AS) is an inherited condition in which both hemoglobin A and S are produced in the red blood cells, always more A than S. Sickle cell trait is not a type of sickle cell disease. People with sickle cell trait are generally healthy. Inheritance Sickle cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color and other physical traits. The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes the person inherits from his or her parents. Like most genes, hemoglobin genes are inherited in two sets, one from each parent. Examples: If one parent has Sickle Cell Anemia and the other is normal, all of the children will have sickle cell trait. If one parent has Sickle Cell Anemia and the other has Sickle Cell Trait, there is a 50% chance (or 1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy. When both parents have Sickle Cell Trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with each pregnancy. How will I know if I have the Trait? A SIMPLE PAINLESS BLOOD TEST followed by a laboratory technique called Hemoglobin Electrophoresis will determine the type of hemoglobin you have. When you pass an electric charge through a solution of hemoglobin, distinct hemoglobins move different distances, depending on their composition. This technique differentiates between normal hemoglobin (A), Sickle hemoglobin (S), and other different kinds of hemoglobin (such as C, D, E, etc.). Medical Problems Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones. The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (arms, legs, chest and abdomen), stroke and priapism (painful prolonged erection). It also causes damage to most organs including the spleen, kidneys and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily overwhelmed by certain bacterial infections. Treatment Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation. Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease patients are best managed in a comprehensive multi-disciplinary program of care. Blood transfusions help benefit sickle cell disease patients by reducing recurrent pain crises, risk of stroke and other complications. Because red blood cells contain iron, and there is no natural way for the body to eliminate it, patients who receive repeated blood transfusions can accumulate iron in the body until it reaches toxic levels. It is important to remove excess iron from the body, because it can gather in the heart, liver and other organs and may lead to organ damage. Treatments are available to eliminate iron overload. Promising Treatment Developments In search for a substance that can prevent red blood cells from sickling without causing harm to other parts of the body, Hydroxyurea was found to reduce the frequency of severe pain, acute chest syndrome and the need for blood transfusions in adult patients with sickle cell disease. Droxia, the prescription form of hydroxyurea, was approved by the FDA in 1998 and is now available for adult patients with sickle cell anemia. Studies will now be conducted to determine the proper dosage for children. Other treatment options in clinical development include new, more convenient options than current therapies to eliminate iron overload caused by repeated blood transfusions. FAQ 1) What is sickle cell disease? Sickle cell disease is an inherited disorder that affects red blood cells. People with sickle cell disease have red blood cells that become hard and pointed instead of soft and round. Sickle cells cause anemia, pain and many other problems. 2) What is sickle cell trait? If you have sickle cell trait, you have inherited the gene for sickle cell disease. Sickle cell trait does not turn into sickle cell disease. If someone has sickle cell trait and his partner has sickle cell trait they may produce a child with sickle cell disease. There are about 2.5 million people in America with sickle cell trait. 3) If sickle cell trait is not an illness, why are people tested? Babies are tested to see if they have sickle cell disease. Teens and adults are tested mainly to see if they can have a baby with the disease. 4) What medical problems are caused by sickle cell disease? Lung tissue damage, pain episodes and stroke. The blockage of blood flow caused by sickled cells also causes damage to most organs including the spleen, kidneys and liver. 5) How many people have sickle cell disease? Sickle cell disease is a global health problem. In the United States it is estimated that over 70,000 people have sickle cell disease. About 1,000 babies are born with the disease each year in America. 6) How long does a person with sickle cell disease live? The average life expectancy in America has improved. It is now in the mid 40 years of age range. 7) Are people of African descent the only group affected? No. It is also present in Portuguese, Spanish, French Corsicans, Sardinians, Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease also appears in Middle Eastern countries and Asia. 8) Is there a cure? There is no universal cure for sickle cell disease. Research in gene therapy, the ultimate universal cure, is currently underway. 9) What are some promising treatment developments? The use of hydroxyurea has shown promising results on some adult sickle cell patients. It reduces the frequency of severe pain, acute chest syndrome and the need for blood transfusions. 10) Can people with sickle cell disease live a productive life? Yes. But like all patients with chronic disease, sickle cell patients are best managed in a comprehensive multi-disciplinary program of care and a strong extended support system. *Information obtained from the Sickle Cell Disease Association of America, Inc.