Laura+S.



Sickle cell disease is a disease that affects red blood cells and is inherited. People with sickle cell disease have a different kind of hemoglobin in their red blood cells called hemoglobin S. Normal hemoglobin helps carry oxygen to different parts of the body. Hemoglobin S is different from normal hemoglobin only by a single amino acid substitution. They live for about 16 days compared to the usual 120 days. The red blood cells become hard and stiff instead of soft and round. Problems occur when these blood cells become crescent shaped and can block small blood vessels. This can reduce the flow of blood and can damage healthy tissue. The most common types of Sickle Cell Disease are Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease (SC), Sickle-Beta Plus Thalassemia and Sickle Beta-Zero Thalassemia. **__Inheritance__** Sickle Cell Anemia is an autosomal recessive genetic disorder. Autosomal Recessive is one way a trait, disorder, or disease can be inherited. This disorder is caused by a problem in the HBB gene, which codes for hemoglobin. Sickle Cell Anemia is caused when people inherit two copies of sickle cell gene, one from each parent. The course of Sickle Cell Anemia varies per patient. Some have mild symptoms while others have severe symptoms. All of these symptoms are caused by the blockage of the flow of blood in blood vessels. First recognizable in infants at about five months, hands and feet can swell and pain and fever can occur. Fatigue, paleness and shortness of breath are all related to the shortage of red blood cells. The retina (the film of your eye which processes visual images), can deteriorate from malnourishment and can lead to blindness. Painful crises can happen in any part of the body and are triggered by cold and dehydration. Pain may last anywhere from 2 hours to 2 weeks. Yellowing of skin and eyes and unpredictable pain are all related to this disorder. Life expectancy can be reduced to around 42 years for males and 48 years for females. Pain is present when any of the following have occurred: chilling of the body, dehydration, sudden change in body temperature, lack of oxygen, infection, skipping meals, physical exertion and emotional stress. Acute chest syndrome is a common illness related to sickle cell disease that can be life-threatening. It's similar to pneumonia which is the leading cause of death in sickle cell patients. Symptoms include coughing, difficulty breathing, fever, and chest pain. Other complications can occur such as: gallstones, bone necrosis, kidney disease, increased risk of infection, leg ulcers, retinopathy and priapism. Sickle cell is most common in places where Malaria is common such as Africa, Asia, South America, Middle and Far East, Caribbean and the Mediterranean. It is believed that people who carry the sickle cell gene are immune to catching Malaria. It’s seen in 1 in 4 West Africans, 1 in 10 African-Caribbeans, 1 in 50 Asians, 1 in 100 Greeks and sometimes in Northern Europeans. In the United States, African Americans are the most common people to contract this disease. __**Cure **__ Currently, the only cure for Sickle Cell Disease is a bone marrow transplant (BMT). Bone marrow is taken from a brother or sister or unrelated person and transplanted to the infected person.  There are many risks to this procedure though. There must be a matched donor to reduce the risk of it being rejected. The procedure for a bone marrow transplant is when damaged stem cells are replaced for new, healthy ones. Stem cells are important and create three different kinds of cells: red blood cells which carry oxygen to different parts of the body, white blood cells that fight infection, and platelets that help blood to clot. For best results, the procedure should be done when the child is young and before major complications have occurred. Not all transplants are successful though. In a study shown in the New England Journal of Medicine: 2 of 22 patients died from procedure-related complications, 7 of 22 patients had severe neurological injury, 3 of 22 patients had the disease return, 1 of 22 patients had the procedure completely fail. __**Diagnosis**__ Sickle cell disease is commonly diagnosed at birth with a blood test. If the baby is positive on the first test and shows some sickle cell hemoglobin, a second test will be issued within the first month of life. Currently in the United States, more than 40 states require tests to be given to all newborns to look for Sickle cell disease. Sickle cell anemia can also be diagnosed before birth. A sample is taken amniotic fluid or tissue from the placenta. When taken before birth, doctors look for the sickle cell gene. Younger kids with sickle cell anemia take a drug called Penicillin which helps prevent infection. Folic acid is a vitamin supplement that helps the body make red blood cells. Blood transfusions are another treatment option. It helps to remain the normal amount of hemoglobin in the blood and helps decrease blockages. Hydroxyurea is normally used to treat cancer, but when used with this disease it can help reduce the frequency of painful crises and the need for blood transfusions. //Experimental Treatments// - Possible new sickle cell anemia treatements are: gene therapy, butyric acid, clotrimazole, nitric oxide and nicosan. Gene therapy is when a healthy new gene is inserted into the bone marrow. Also turning off the unhealthy gene while reactivating another one could produce more hemoglobin. Butyric acid increases the amount of hemoglobin in the blood. Clotrimazole is an antifungal medicine you can get over the counter. When used for this disease, it helps to store the water in the red blood cells which reduces sickle cells. Nitric oxide is a gas that helps blood to flow. The use of this may help to prevent sickle cells from packing together. Nicosan is a herbal treatment used in Nigeria to prevent sickle crises. //American Sickle Cell Anemia Association//- P.O. Box 1971, 10300 Carnegie Avenue, Cleveland, OH 44106, Phone: 216.229.8600, Fax: 216.229.4500, Email: ashc@cybernex.org, URL: [|www.ascaa.org] //Sickle Cell Disease Association of America//- (SCDAA) 200 Corporate Point, Suite 495, Culver City, CA 90230-8727, Phone: 310.216.6363 or 800.421.8453, Fax: 310.215.3722, Email: scdaa@sicklecelldisease.org //Sickle Cell Anemia Research Foundation//- (SCARF), 2625 Third Street, P.O. Box 306, Alexandria, LA 71309, Phone: 877.722.7370, Email: scarf@sicklecelldisease.org //Sickle Cell Disease Association of America//- 231 East Baltimore Street, Suite 800, Baltimore, MD 21202, Phone: 1.800.421.8453, Fax: 410.528.1495, URL: [|www.sicklecelldisease.org] //Parents Sickle Cell Support Group-St. Christophers Hospital for Children- E//very third Saturday of the month. 2:00-4:00 P.M. In the Hermatology clinic on the 2nd floor. Contact Phyllis Henderson, Phone: 215.427.4442
 * __Summary__**
 * __Symptoms__**
 * __Who can get Sickle Cell Disease?__**
 * __Treatment__**
 * __Support Groups__**